A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569429



Internal ID18697627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:55122543..55128059hg38UCSC Ensembl
Innerchr4:55988710..55994226hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385517
hg195517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9770959, essv9770958
Samples400132HN, 401039PA
Known GenesKDR
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)esv3569429
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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