A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579963



Internal ID18361475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:128833528..128837643hg38UCSC Ensembl
Innerchr11:128703423..128707538hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg384116
hg194116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv423e212
Supporting Variantsessv9799157, essv9799156
Samples401889FR, 400818BL
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)esv3579963
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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