A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8591n54



Internal ID22776486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131983499..131994298hg38UCSC Ensembl
chr3:131702343..131713142hg19UCSC Ensembl
chr3:133185033..133195832hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3810800
hg1910800
hg1810800
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591728, nsv591726, nsv591729
Samples
Known GenesCPNE4, MIR5704
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8591n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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