A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582397



Internal ID18363909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83162838..83177287hg38UCSC Ensembl
Innerchr16:83196443..83210892hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3814450
hg1914450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv867e212
Supporting Variantsessv9811973, essv9811970, essv9811979, essv9811969, essv9811971, essv9811972, essv9811976, essv9811975, essv9811968, essv9811974, essv9811967
Samples401235IA, 400949AM, 400797ST, 400482MD, 400292LP, 400186WC, 400783MJ, 400999HR, 400677HD, 400138LA, 401246HH
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3582397
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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