A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989951



Internal ID12976916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41866864..41986864hg38UCSC Ensembl
Innerchr13:42441000..42561000hg19UCSC Ensembl
Innerchr13:41339000..41459000hg18UCSC Ensembl
Innerchr13:41339000..41459000hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38120001
hg19120001
hg18120001
hg17120001
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989951
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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