A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9782630



Internal ID18291490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167194514..167805095hg38UCSC Ensembl
Innerchr6:167608002..168205775hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38610582
hg19597774
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576253
Supporting Variants
Samples400341GL
Known GenesC6orf123, TCP10, TTLL2, UNC93A
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=321
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9782630
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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