A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274934



Internal ID1154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73936827..73938962hg38UCSC Ensembl
Outerchr14:73932913..73939328hg38UCSC Ensembl
Innerchr14:74403530..74405665hg19UCSC Ensembl
Outerchr14:74399616..74406031hg19UCSC Ensembl
Innerchr14:73473283..73475418hg18UCSC Ensembl
Outerchr14:73469369..73475784hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg386416
hg196416
hg186416
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585330, essv2586066
Samples
Known GenesFAM161B
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274934
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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