A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34089



Internal ID5938634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119209489..119530338hg38UCSC Ensembl
Innerchr1:119752112..120072961hg19UCSC Ensembl
Innerchr1:119553635..119874484hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38320850
hg19320850
hg18320850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990631
Samples
Known GenesHAO2, HSD3B1, HSD3B2
MethodSNP array
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.
PlatformNot reported
Comments
ReferenceGusev_et_al_2009
Pubmed ID18971310
Accession Number(s)esv34089
Frequency
Sample Size270
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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