A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3268n54



Internal ID20136692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78566708..78642283hg38UCSC Ensembl
chr13:79140843..79216418hg19UCSC Ensembl
chr13:78038844..78114419hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3875576
hg1975576
hg1875576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv562409, nsv562408
Samples1780862444_A, 1780862306_A
Known GenesPOU4F1, RNF219, RNF219-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3268n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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