A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787850



Internal ID18830089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17752895..18037489hg38UCSC Ensembl
Innerchr2:17934162..18218755hg19UCSC Ensembl
Innerchr2:17797643..18082236hg18UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38284595
hg19284594
hg18284594
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891603
Supporting Variants
Samples
Known GenesGEN1, KCNS3, MSGN1, SMC6
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=84
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787850
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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