A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582020



Internal ID18363532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14956112..15033033hg38UCSC Ensembl
Innerchr16:15049969..15126890hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3876922
hg1976922
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv793e212
Supporting Variantsessv9810026, essv9810027, essv9810030, essv9810028, essv9810029, essv9810025
Samples400987FB, 400241CP, 400674CA, 400411TG, 401930GD, 400863SS
Known GenesPDXDC1
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)esv3582020
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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