A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892614



Internal ID18836748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70505720..70803944hg38UCSC Ensembl
Outerchr2:70505720..70803944hg38UCSC Ensembl
Innerchr2:70732852..71031076hg19UCSC Ensembl
Outerchr2:70732852..71031076hg19UCSC Ensembl
Innerchr2:70586360..70884584hg18UCSC Ensembl
Outerchr2:70586360..70884584hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38298225
hg19298225
hg18298225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792001
Samples
Known GenesADD2, FIGLA, TGFA
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892614
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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