A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584102



Internal ID18712300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150535545..150555968hg38UCSC Ensembl
Innerchr2:151392059..151412482hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3820424
hg1920424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9835273
Samples401661HD
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)esv3584102
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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