A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790139



Internal ID19169904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10645035..10804226hg38UCSC Ensembl
Innerchr21:10708231..10867422hg19UCSC Ensembl
Innerchr21:9730102..9889293hg18UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38159192
hg19159192
hg18159192
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893361
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790139
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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