A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585451



Internal ID347030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113968538..113968897hg38UCSC Ensembl
Outerchr2:113968269..113971510hg38UCSC Ensembl
Innerchr2:114726115..114726474hg19UCSC Ensembl
Outerchr2:114725846..114729087hg19UCSC Ensembl
Innerchr2:114442585..114442944hg18UCSC Ensembl
Outerchr2:114442316..114445557hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg383242
hg193242
hg183242
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275040
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585451
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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