A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3582393

Internal ID18363905
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83013157..83022891hg38UCSC Ensembl
Innerchr16:83046762..83056496hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv866e212
Supporting Variantsessv9811959, essv9811956, essv9811957, essv9811961, essv9811958, essv9811960, essv9811962
Samples401275SJ, 401039PA, 401401BA, 400999HR, 400307HW, 400429YF, 401406KF
Known GenesCDH13
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
Pubmed ID25503493
Accession Number(s)esv3582393
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0

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