A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2675n54



Internal ID22770570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:63475378..63745991hg38UCSC Ensembl
chr12:63869158..64139771hg19UCSC Ensembl
chr12:62155425..62426038hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38270614
hg19270614
hg18270614
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559162, nsv559163, nsv559159, nsv559160, nsv559161, nsv559164
SamplesHGDP00708, HGDP00739, HGDP00520, HGDP00726
Known GenesDPY19L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2675n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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