A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584351



Internal ID18365863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217302514..217312027hg38UCSC Ensembl
Innerchr2:218167237..218176750hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg389514
hg199514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1215e212
Supporting Variantsessv9836924, essv9836922, essv9836926, essv9836925, essv9836923, essv9836920
Samples401966SR, 400783MJ, 400064WJ, 402054BD, 400869BK, 401152MV
Known GenesDIRC3
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)esv3584351
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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