A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891904



Internal ID19186300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40576681..40731559hg38UCSC Ensembl
Outerchr2:40576681..40731559hg38UCSC Ensembl
Innerchr2:40803821..40958699hg19UCSC Ensembl
Outerchr2:40803821..40958699hg19UCSC Ensembl
Innerchr2:40657325..40812203hg18UCSC Ensembl
Outerchr2:40657325..40812203hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38154879
hg19154879
hg18154879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787776
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891904
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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