A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569421



Internal ID18350933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:53379608..53382880hg38UCSC Ensembl
Innerchr4:54245775..54249047hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg383273
hg193273
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9770838, essv9770845, essv9770841, essv9770843, essv9770840, essv9770837, essv9770839, essv9770842
Samples400599CP, 400821FE, 400294HD, 401393JW, 401942MP, 400571WV, 400376SJ, 401153HS
Known GenesFIP1L1
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)esv3569421
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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