A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790275



Internal ID18835069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43333739..43918067hg38UCSC Ensembl
Innerchr8:43188882..43773210hg19UCSC Ensembl
Innerchr8:43308039..43892367hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38584329
hg19584329
hg18584329
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891387
Supporting Variants
Samples
Known GenesPOTEA
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=64
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790275
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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