A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580937



Internal ID18362449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22148089..22475517hg38UCSC Ensembl
Innerchr14:22616043..22944507hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38327429
hg19328465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv599e212
Supporting Variantsessv9804783, essv9804782
Samples400569WC, 400759FV
Known Genes
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)esv3580937
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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