A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790976



Internal ID18829792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960940..22163280hg38UCSC Ensembl
Innerchr22:22315312..22517673hg19UCSC Ensembl
Innerchr22:20645312..20847673hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38202341
hg19202362
hg18202362
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893445
Supporting Variants
Samples
Known GenesTOP3B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=130
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790976
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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