A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788500



Internal ID18828373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:32497130..32626071hg38UCSC Ensembl
Innerchr21:33869440..33998381hg19UCSC Ensembl
Innerchr21:32791311..32920252hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38128942
hg19128942
hg18128942
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893405
Supporting Variants
Samples
Known GenesC21orf59, EVA1C, TCP10L
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=50
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788500
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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