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.

   Genome Browser Response:

chr7 Displays all of chromosome 7
20p13 Displays region for band p13 on chr 20
chr3:1-1000000 Displays first million bases of chr 3, counting from p arm telomere
chr3:1000000+2000 Displays a region of chr3 that spans 2000 bases, starting with position 1000000

D16S3046 Displays region around STS marker D16S3046 from the Genethon/Marshfield maps. Includes 100,000 bases on each side as well.
RH18061;RH80175 Displays region between STS markers RH18061;RH80175. Includes 100,000 bases on each side as well. This syntax may also be used for other range queries, such as between cytobands and uniquely-determined ESTs, mRNAs, refSeqs, etc.

AA205474 Displays region of EST with GenBank accession AA205474 in BRCA1 cancer gene on chr 17
AC008101 Displays region of clone with GenBank accession AC008101
AF083811 Displays region of mRNA with GenBank accession number AF083811
PRNP Displays region of genome with HUGO Gene Nomenclature Committee identifier PRNP
Displays the region of genome with RefSeq identifier NM_017414
Displays the region of genome with protein accession number NP_059110

pseudogene mRNA Lists transcribed pseudogenes, but not cDNAs
homeobox caudal Lists mRNAs for caudal homeobox genes
zinc finger Lists many zinc finger mRNAs
kruppel zinc finger Lists only kruppel-like zinc fingers
huntington Lists candidate genes associated with Huntington's disease
zahler Lists mRNAs deposited by scientist named Zahler
Evans,J.E. Lists mRNAs deposited by co-author J.E. Evans

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:

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