A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893248



Internal ID19184068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:122658241..122712501hg38UCSC Ensembl
Outerchr2:122658241..122712501hg38UCSC Ensembl
Innerchr2:123415817..123470077hg19UCSC Ensembl
Outerchr2:123415817..123470077hg19UCSC Ensembl
Innerchr2:123132287..123186547hg18UCSC Ensembl
Outerchr2:123132287..123186547hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3854261
hg1954261
hg1854261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796987
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893248
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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