A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790721



Internal ID18824385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:103434468..103657952hg38UCSC Ensembl
Innerchr8:104446696..104670180hg19UCSC Ensembl
Innerchr8:104515872..104739356hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38223485
hg19223485
hg18223485
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891453
Supporting Variants
Samples
Known GenesDCAF13, RIMS2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790721
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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