A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791473



Internal ID18826837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21994691..22205356hg38UCSC Ensembl
Innerchr22:22349088..22559747hg19UCSC Ensembl
Innerchr22:20679088..20889747hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38210666
hg19210660
hg18210660
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 HumanHap 610
CommentsNumber of probes=181
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791473
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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