A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893383



Internal ID19184203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18341504..18411575hg38UCSC Ensembl
Outerchr21:18341504..18411575hg38UCSC Ensembl
Innerchr21:19713821..19783892hg19UCSC Ensembl
Outerchr21:19713821..19783892hg19UCSC Ensembl
Innerchr21:18635692..18705763hg18UCSC Ensembl
Outerchr21:18635692..18705763hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3870072
hg1970072
hg1870072
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791337
Samples
Known GenesTMPRSS15
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893383
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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