A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787834



Internal ID18819685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22024669..22200684hg38UCSC Ensembl
Innerchr22:22379067..22555078hg19UCSC Ensembl
Innerchr22:20709067..20885078hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38176016
hg19176012
hg18176012
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893445
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=81
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787834
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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