A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274918



Internal ID347878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:80354385..80355455hg38UCSC Ensembl
Outerchr14:80354358..80360854hg38UCSC Ensembl
Innerchr14:80820728..80821798hg19UCSC Ensembl
Outerchr14:80820701..80827197hg19UCSC Ensembl
Innerchr14:79890481..79891551hg18UCSC Ensembl
Outerchr14:79890454..79896950hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg386497
hg196497
hg186497
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586126, essv2585358
Samples
Known GenesDIO2-AS1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274918
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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