A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6943n54



Internal ID22774838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:81960228..82093530hg38UCSC Ensembl
chr2:82187352..82320654hg19UCSC Ensembl
chr2:82040863..82174165hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38133303
hg19133303
hg18133303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582350, nsv582353, nsv582349, nsv582348, nsv582345, nsv582346, nsv582347, nsv582351
SamplesHGDP01166, 1780862461_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6943n54
Frequency
Sample Size17421
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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