A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790509



Internal ID19173512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18685601..18706106hg38UCSC Ensembl
Innerchr21:20057919..20078424hg19UCSC Ensembl
Innerchr21:18979790..19000295hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3820506
hg1920506
hg1820506
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893384
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790509
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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