A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2756706



Internal ID12624858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46427040..46457600hg38UCSC Ensembl
Innerchr10:47092156..47122715hg19UCSC Ensembl
Innerchr10:46512162..46542721hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3830561
hg1930560
hg1830560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv101790
SamplesNA18504
Known GenesLINC00842
MethodSNP array
AnalysisWe searched through the HapMap samples for gaps in long segmental sharing, which exhibited this characteristic of loss of heterozygosity as well as a high rate of IBS mismatches.
Platform[Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array
Comments
ReferenceGusev_et_al_2009
Pubmed ID18971310
Accession Number(s)esv2756706
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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