A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585358



Internal ID346937
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 loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274918
Supporting Variants
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)essv2585358
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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