A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792984



Internal ID18823183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20382025..20639899hg38UCSC Ensembl
Innerchr22:20736315..20994186hg19UCSC Ensembl
Innerchr22:19066315..19324186hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38257875
hg19257872
hg18257872
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893438
Supporting Variants
Samples
Known GenesKLHL22, MED15, SCARF2, ZNF74
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=93
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792984
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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