A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893490



Internal ID19184310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45425835..45450591hg38UCSC Ensembl
Outerchr22:45425835..45450591hg38UCSC Ensembl
Innerchr22:45821715..45846472hg19UCSC Ensembl
Outerchr22:45821715..45846472hg19UCSC Ensembl
Innerchr22:44200379..44225136hg18UCSC Ensembl
Outerchr22:44200379..44225136hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3824757
hg1924758
hg1824758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788986
Samples
Known GenesRIBC2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893490
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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