A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569740



Internal ID18697938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:147565147..147579570hg38UCSC Ensembl
Innerchr4:148486299..148500722hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3814424
hg1914424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9772731, essv9772732
Samples402060PD, 401354KM
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)esv3569740
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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