A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893362



Internal ID19184182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13097273..13130054hg38UCSC Ensembl
Outerchr21:13079926..13139007hg38UCSC Ensembl
Innerchr21:14469594..14502375hg19UCSC Ensembl
Outerchr21:14452247..14511328hg19UCSC Ensembl
Innerchr21:13391465..13424246hg18UCSC Ensembl
Outerchr21:13374118..13433199hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3859082
hg1959082
hg1859082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791649, essv25792390, essv25791311, essv25792262, essv25790143, essv25793165, essv25791223, essv25791071, essv25792415, essv25792204, essv25792438, essv25792060, essv25791289, essv25792399, essv25792103, essv25792064, essv25792290, essv25792189, essv25792363, essv25792140, essv25792296, essv25792226, essv25792321, essv25792182, essv25792161, essv25792150, essv25791220, essv25792077, essv25792170, essv25792201, essv25792154, essv25792210
Samples
Known GenesANKRD30BP2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893362
Frequency
Sample Size3017
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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