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SRX1937514: Sequencing of individual NA11917: Sample NA11917
1 ILLUMINA (Illumina HiSeq 2000) run: 674,106 spots, 102.5M bases, 79.8Mb 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: GM11917 male unaffected Ceph/utah pedigree 1423 sample
SAMN00800943 • SRS003532 • All experiments • All runs
Organism: Homo sapiens
Library:
Name: NA11917_r1
Instrument: Illumina HiSeq 2000
Strategy: AMPLICON
Source: GENOMIC
Selection: Reduced Representation
Layout: PAIRED
Spot descriptor:
forward102  reverse

Runs: 1 run, 674,106 spots, 102.5M bases, 79.8Mb
Run# of Spots# of BasesSizePublished
SRR3881301674,106102.5M79.8Mb2016-08-09

ID:
2792913

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