A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990671



Internal ID12624752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:38335478..38436995hg38UCSC Ensembl
Innerchr9:38335475..38436992hg19UCSC Ensembl
Innerchr9:38325475..38426992hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38101518
hg19101518
hg18101518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34172
Supporting Variants
Samples
Known GenesALDH1B1, IGFBPL1
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)essv6990671
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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