A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579993



Internal ID18361505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:89580840..90609205hg38UCSC Ensembl
Innerchr11:89314008..90342373hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg381028366
hg191028366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9798604
Samples400122PL
Known GenesCHORDC1, DISC1FP1, FOLH1B, MIR4490, MIR5692A1, NAALAD2, NOX4, TRIM49, TRIM49C, TRIM49D1, TRIM49D2P, TRIM53AP, TRIM64, TRIM64B, TRIM77, UBTFL1
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)esv3579993
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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