A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582014



Internal ID18363526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14141512..14146203hg38UCSC Ensembl
Innerchr16:14235369..14240060hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg384692
hg194692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9809990
Samples401859GS
Known GenesMKL2
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)esv3582014
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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