A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3127n54



Internal ID22771022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41833250..42005392hg38UCSC Ensembl
chr13:42407386..42579528hg19UCSC Ensembl
chr13:41305386..41477528hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38172143
hg19172143
hg18172143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv561540, nsv561541
Samples
Known GenesVWA8, VWA8-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3127n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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