A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576259



Internal ID18704457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167932628..168210651hg38UCSC Ensembl
Innerchr6:168333308..168611331hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38278024
hg19278024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1853e212
Supporting Variantsessv9782651, essv9782652, essv9782653
Samples401403TD, 400155CW, 402061PI
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)esv3576259
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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