A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792001



Internal ID18828326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70505720..70803944hg38UCSC Ensembl
Innerchr2:70732852..71031076hg19UCSC Ensembl
Innerchr2:70586360..70884584hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38298225
hg19298225
hg18298225
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892614
Supporting Variants
Samples
Known GenesADD2, FIGLA, TGFA
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=102
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792001
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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