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The March 2006 human reference sequence (NCBI Build 36.1)
was produced by the International Human Genome Sequencing Consortium.
Sample position queries
A genome position can be specified by the accession number of a
sequenced genomic clone, an mRNA or EST or STS marker, or
a cytological band, a chromosomal coordinate range, or keywords from
the GenBank description of an mRNA. The following list shows
examples of valid position queries for the human genome.
See the
User's Guide for more information.
Request:
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Genome Browser Response:
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chr7 |
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Displays all of chromosome 7 |
20p13 |
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Displays region for band p13 on chr 20 |
chr3:1-1000000 |
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Displays first million bases of chr 3, counting from p arm telomere |
chr3:1000000+2000 |
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Displays a region of chr3 that spans 2000 bases, starting with position 1000000 |
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D16S3046 |
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Displays region around STS marker D16S3046 from the Genethon/Marshfield maps.
Includes 100,000 bases on each side as well. |
RH18061;RH80175 |
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Displays region between STS markers RH18061;RH80175.
This syntax may also be used for other range queries, such
as between cytobands and uniquely-determined ESTs, mRNAs,
refSeqs, etc. |
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AA205474 |
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Displays region of EST with GenBank accession AA205474 in BRCA1 cancer gene on chr 17 |
AC008101 |
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Displays region of clone with GenBank accession AC008101 |
AF083811 |
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Displays region of mRNA with GenBank accession number AF083811 |
PRNP |
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Displays region of genome with HUGO Gene Nomenclature Committee identifier PRNP |
NM_017414 |
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Displays the region of genome with RefSeq identifier NM_017414 |
NP_059110 |
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Displays the region of genome with protein accession number NP_059110 |
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pseudogene mRNA |
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Lists transcribed pseudogenes, but not cDNAs |
homeobox caudal |
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Lists mRNAs for caudal homeobox genes |
zinc finger |
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Lists many zinc finger mRNAs |
kruppel zinc finger |
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Lists only kruppel-like zinc fingers |
huntington |
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Lists candidate genes associated with Huntington's disease |
zahler |
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Lists mRNAs deposited by scientist named Zahler |
Evans,J.E. |
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Lists mRNAs deposited by co-author J.E. Evans |
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Use this last format for author queries. Although GenBank
requires the search format Evans JE, internally it uses
the format Evans,J.E.. |
Assembly Details
The NCBI Build 36.1 reference
sequence is considered to be "finished", a technical term indicating that
the sequence is highly accurate (with fewer than one error per 10,000
bases) and highly contiguous (with the only remaining gaps corresponding
to regions whose sequence cannot be reliably resolved with current
technology). Future work on the reference sequence will focus on improving
accuracy and reducing gaps in the sequence. Statistics for the Build 36.1
assembly can be found on the NCBI
Build 36.1 Statistics web page.
This assembly contains four alternate haplotype regions:
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chr22_h2_hap1 -- an alternate chromosome 22 assembly that contains the CYP2D6
gene (NT_113959.1). CYP2D6 is deleted in the reference assembly.
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chr5_h2_hap1 -- a chromosome 5 alternate assembly of the SMN1 gene region
(NT_113801.1, NT_113802.1).
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chr6_cox_hap1 -- an A1-B8-DR3 alternate haplotype assembly of the chromosome 6
MHC region based on sequence data from the COX library (NT_113891.1).
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chr6_qbl_hap2 -- an A26-B18-DR3 alternate haplotype assembly of the chromosome
6 MHC region based on sequence data from the QBL library (NT_113892.1,
NT_113893.1, NT_113894.1, NT_113895.1, NT_113896.1, NT_113897.1).
See the
Wellcome Trust Sanger Institute MHC Haplotype
Project web site for additional information on the
chr6 alternate haplotype assemblies.
The Y chromosome in this assembly contains two pseudoautosomal regions (PARs) at
chrY:1-2709520 and chrY:57443438-57772954. These sequences were taken from
the corresponding regions in the X chromosome and are exact duplications of
the X chromosome sequences at chrX:1-2709520 and chrX:154584237-154913754,
respectively.
For further information on NCBI Build 36.1, see the NCBI
Build 36.1 release notes.
Bulk downloads of the data are available from the UCSC downloads server via
ftp
or http. We recommend that you use ftp or rsync for downloading
large or multiple files.
The hg18 annotation tracks were generated by UCSC and
collaborators worldwide. See the
Credits
page for a detailed list of the organizations and individuals who contributed
to this release.
Statistical information
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