A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891260



Internal ID18838970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2490735..2878245hg38UCSC Ensembl
Outerchr8:2479995..2940254hg38UCSC Ensembl
Innerchr8:2347851..2735767hg19UCSC Ensembl
Outerchr8:2337094..2797776hg19UCSC Ensembl
Innerchr8:2335258..2723174hg18UCSC Ensembl
Outerchr8:2324501..2785183hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38460260
hg19460683
hg18460683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791910, essv25791396, essv25793057, essv25788198, essv25791072, essv25788854, essv25790905, essv25788858, essv25792699, essv25789585, essv25792493
Samples
Known GenesCSMD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891260
Frequency
Sample Size3017
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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