A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575556



Internal ID18357068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:23642287..23815715hg38UCSC Ensembl
Innerchr3:23683778..23857206hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38173429
hg19173429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837652
Samples400385LJ
Known GenesUBE2E1
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)esv3575556
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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