A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568698



Internal ID18696896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105577926..105740061hg38UCSC Ensembl
Innerchr14:106044263..106206398hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38162136
hg19162136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv680e212
Supporting Variantsessv9807268
Samples400882DD
Known GenesELK2AP, MIR8071-1, MIR8071-2
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3568698
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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