A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984387



Internal ID12976907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41833623..41997000hg38UCSC Ensembl
Innerchr13:42407759..42571136hg19UCSC Ensembl
Innerchr13:41305759..41469136hg18UCSC Ensembl
Innerchr13:41305759..41469136hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38163378
hg19163378
hg18163378
hg17163378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751144
Supporting Variants
SamplesBEC_699
Known GenesVWA8, VWA8-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984387
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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