A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790745



Internal ID18820996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:17364904..17698240hg38UCSC Ensembl
Innerchr21:18737223..19070558hg19UCSC Ensembl
Innerchr21:17659094..17992429hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38333337
hg19333336
hg18333336
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893382
Supporting Variants
Samples
Known GenesBTG3, C21orf37, CXADR
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=89
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790745
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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