A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569505



Internal ID18351017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68802277..68843354hg38UCSC Ensembl
Innerchr4:69667995..69709072hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3841078
hg1941078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9771583
Samples400060MC
Known GenesUGT2B10
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)esv3569505
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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