A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571455



Internal ID18699653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:150193139..150200850hg38UCSC Ensembl
Innerchr6:150514275..150521986hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg387712
hg197712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1839e212
Supporting Variantsessv9782314, essv9782320, essv9782316, essv9782321, essv9782318, essv9782317, essv9782319, essv9782315
Samples401503MJ, 401249TP, 401860TJ, 401855RE, 401939GD, 400724CD, 401346FJ, 401608GE
Known GenesPPP1R14C
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)esv3571455
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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