A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584054



Internal ID18712252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:126312975..126324385hg38UCSC Ensembl
Innerchr2:127070552..127081962hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3811411
hg1911411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9835080, essv9835081
Samples401465TB, 400569WC
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)esv3584054
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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