A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893438



Internal ID18837572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20382025..20639899hg38UCSC Ensembl
Outerchr22:20382025..20639899hg38UCSC Ensembl
Innerchr22:20736315..20994186hg19UCSC Ensembl
Outerchr22:20736315..20994186hg19UCSC Ensembl
Innerchr22:19066315..19324186hg18UCSC Ensembl
Outerchr22:19066315..19324186hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38257875
hg19257872
hg18257872
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792984
Samples
Known GenesKLHL22, MED15, SCARF2, ZNF74
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893438
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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