A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983162



Internal ID12974920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41866845..41986842hg38UCSC Ensembl
Innerchr13:42440981..42560978hg19UCSC Ensembl
Innerchr13:41338981..41458978hg18UCSC Ensembl
Innerchr13:41338981..41458978hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38119998
hg19119998
hg18119998
hg17119998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751143
Supporting Variants
SamplesBEC_549
Known GenesVWA8, VWA8-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983162
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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