A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585330



Internal ID223
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274934
Supporting Variants
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)essv2585330
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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