A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9781443



Internal ID18626805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:116095308..116431057hg38UCSC Ensembl
Innerchr6:116416471..116752220hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38335750
hg19335750
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576211
Supporting Variants
Samples400059SV
Known GenesCOL10A1, DSE, NT5DC1, TSPYL1, TSPYL4
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=388
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9781443
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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