A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788386



Internal ID19166078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13190193..13915563hg38UCSC Ensembl
Innerchr21:14562514..15287884hg19UCSC Ensembl
Innerchr21:13484385..14209755hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38725371
hg19725371
hg18725371
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893367
Supporting Variants
Samples
Known GenesC21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=110
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788386
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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