A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571369



Internal ID18699567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:116582881..116589140hg38UCSC Ensembl
Innerchr6:116904044..116910303hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg386260
hg196260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9781451, essv9781448, essv9781452, essv9781450, essv9781453, essv9781449
Samples400051MR, 400631SJ, 400770MA, 400881GS, 400012CJ, 400532MH
Known GenesRWDD1
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)esv3571369
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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