A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788444



Internal ID19170967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:34570988..35202474hg38UCSC Ensembl
Innerchr2:34796055..35427540hg19UCSC Ensembl
Innerchr2:34649559..35281044hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38631487
hg19631486
hg18631486
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891826
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=144
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788444
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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