A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9782607



Internal ID18630136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166559063..166567770hg38UCSC Ensembl
Innerchr6:166972551..166981258hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg388708
hg198708
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3571533
Supporting Variants
Samples400131CM
Known GenesRPS6KA2
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
CommentsNumber of probes=9
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9782607
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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