A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789032



Internal ID18818970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41494369..41860297hg38UCSC Ensembl
Innerchr21:42866296..43280406hg19UCSC Ensembl
Innerchr21:41788166..42153475hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38365929
hg19414111
hg18365310
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893416
Supporting Variants
Samples
Known GenesLINC00111, LINC00112, LINC00479, MIR6814, PRDM15, RIPK4, TMPRSS2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=161
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789032
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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