A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2990n54



Internal ID22770885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131370928..131692898hg38UCSC Ensembl
chr12:131855473..132177443hg19UCSC Ensembl
chr12:130421426..130743396hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38321971
hg19321971
hg18321971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560833, nsv560834
SamplesHGDP01228
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2990n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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