A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569022



Internal ID18697220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:139011928..139026097hg38UCSC Ensembl
Innerchr3:138730770..138744939hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3814170
hg1914170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9768391, essv9768392
Samples400493KH, 400955BE
Known GenesPRR23B
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)esv3569022
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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