A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576536



Internal ID18358048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:31975669..31977112hg38UCSC Ensembl
Innerchr8:31833185..31834628hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381444
hg191444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9787803, essv9787802
Samples401856GC, 400503HD
Known GenesNRG1
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)esv3576536
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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