A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751144



Internal ID12984696
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 StatusM
Merged Variantsdgv75e55
Supporting Variantsessv6989426, essv6989951, essv6984387
SamplesBEC_699
Known GenesVWA8, VWA8-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751144
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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