A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893382



Internal ID18837516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:17364904..17698240hg38UCSC Ensembl
Outerchr21:17364904..17698240hg38UCSC Ensembl
Innerchr21:18737223..19070558hg19UCSC Ensembl
Outerchr21:18737223..19070558hg19UCSC Ensembl
Innerchr21:17659094..17992429hg18UCSC Ensembl
Outerchr21:17659094..17992429hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38333337
hg19333336
hg18333336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790745
Samples
Known GenesBTG3, C21orf37, CXADR
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893382
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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