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Homo sapiens - Vega Genome Browser 68

Human

Homo sapiens

Annotation progress

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Karyotype selector

Shading indicates the karyotype bands

This Release

Release Date 7 February 2017
Datafreeze Date 18 October 2016
As used in GENCODE 26; Ensembl 88 genebuild
Reference Assembly GRCh38
Annotation Method Complete first pass Manual Annotation

Additional MHC and LRC Haplotypes

Region Haplotypes
MHC 6-COX, 6-QBL, 6-SSTO, 6-APD, 6-DBB, 6-MANN, 6-MCF.
LRC COX_1, COX_2, PGF_1, PGF_2, DM1A, DM1B, MC1A, MC1B.

Comparative Analysis

Region Available species / haplotypes / strains Examples
MHC rat, dog, chimpanzee, gorilla, human (ref. plus 7 haplotypes), mouse (ref. plus 2 NOD strains), pig (Duroc & Large White), rat (mixed sex strain), tasmanian devil, wallaby example
LRC pig, gorilla, human (ref. and 8 haplotypes). example
Auto­some human chr 1 and mouse chr 4; human chr 17 and mouse chr 11 1/4 17/11
Allo­some X: human, mouse and pig example
human chr 20, mouse chr 2 and approx 10 Mbp of pig chr 17 example

Loss of Function Variants

884 transcripts with SNVs, identified in human genomes as part of the pilot phase of the 1000 genome project, were manually annotated for their predicted functional effects. These are shown in a separate track on Vega, and the names of the genes / transcripts are prefixed with 'LOF:'. Further information.

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