A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2756720



Internal ID12624872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55592737..55685358hg38UCSC Ensembl
Innerchr11:55360213..55452834hg19UCSC Ensembl
Innerchr11:55116789..55209410hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3892622
hg1992622
hg1892622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4e49
Supporting Variantsessv101813
SamplesNA18564
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
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)esv2756720
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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