A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579912



Internal ID18708110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:114609745..114633795hg38UCSC Ensembl
Innerchr11:114480467..114504517hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3824051
hg1924051
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv415e212
Supporting Variantsessv9798841, essv9798845, essv9798850, essv9798842, essv9798849, essv9798847, essv9798846, essv9798848, essv9798844
Samples400675HC, 400631SJ, 401664SD, 401855RE, 401870FB, 400795CL, 401391PJ, 400267GD, 401861GG
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)esv3579912
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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