A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792077



Internal ID19180774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13097273..13130891hg38UCSC Ensembl
Innerchr21:14469594..14503212hg19UCSC Ensembl
Innerchr21:13391465..13425083hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3833619
hg1933619
hg1833619
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893362
Supporting Variants
Samples
Known GenesANKRD30BP2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792077
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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