A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8166n54



Internal ID20141590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2189464..2773579hg38UCSC Ensembl
chr3:2231148..2815263hg19UCSC Ensembl
chr3:2206148..2790263hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38584116
hg19584116
hg18584116
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589373, nsv589372
SamplesHGDP01396
Known GenesCNTN4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8166n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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