A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791337



Internal ID19175716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18341504..18411575hg38UCSC Ensembl
Innerchr21:19713821..19783892hg19UCSC Ensembl
Innerchr21:18635692..18705763hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3870072
hg1970072
hg1870072
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893383
Supporting Variants
Samples
Known GenesTMPRSS15
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=33
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791337
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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