A curated catalogue of human genomic structural variation

Variant Details

Variant: esv34089

Internal ID1684720
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119752112..120072961hg19UCSC Ensembl
chr1:119553635..119874484hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variants
Known GenesHAO2, HSD3B1, HSD3B2
AnalysisWe further explored the discovery of segmental deletions in the Kosraean population data where IBD is more prevalent, and we observe a larger number of gaps.We used a binomial score to rank potential deletions in homozygous gaps based on the number of mismatching SNPs and the rate of mismatch in the flanking shared segments, measured across all shared segments with the suspected gap. To prioritize the segmental gaps that were most likely to be representative of a deletion, we developed a scoring function based on the number of mismatching SNPs and levels of homozygosity in the gap.
Platform[Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array
ReferenceGusev et al 2009
Pubmed ID18971310
Accession Number(s)esv34089
Sample Size270
Observed Gainn/a
Observed Lossn/a
Observed Complexn/a

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