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SRX1938933: Sequencing of individual NA21784: Sample NA21784
1 ILLUMINA (Illumina HiSeq 2000) run: 647,657 spots, 98.4M bases, 76.3Mb downloads

Design: molecular inversion probe capture
Submitted by: DEPARTMENT OF GENOME SCIENCES, UNIVERSITY OF WASHINGTON (DEPARTMENT OF GENOME SCIENCES, UNIVERSITY OF WASHI)
Study: Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
show Abstracthide Abstract
Genetic differences that specify unique aspects of human evolution have typically been identified by comparative analyses between the genomes of humans and closely related primates, including more recently the genomes of archaic hominins. Not all regions of the genome, however, areequally amenable to such study. Recurrent copy number variation (CNV) at chromosome 16p11.2accounts for ~1% of autism cases and is mediated by a complex set of segmental duplications, many of which arose recently during human evolution. We reconstructed the evolutionary history of the locus and identified BOLA2 (bolA family member 2) as a gene duplicated exclusively in Homo sapiens.
Sample: HapMap sample from Homo sapiens
SAMN00008157 • SRS004091 • All experiments • All runs
Organism: Homo sapiens
Library:
Name: NA21784_r1
Instrument: Illumina HiSeq 2000
Strategy: AMPLICON
Source: GENOMIC
Selection: Reduced Representation
Layout: PAIRED
Spot descriptor:
forward102  reverse

Runs: 1 run, 647,657 spots, 98.4M bases, 76.3Mb
Run# of Spots# of BasesSizePublished
SRR3882720647,65798.4M76.3Mb2016-08-09

ID:
2794332

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