A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571318



Internal ID18352830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:99386035..99397038hg38UCSC Ensembl
Innerchr6:99833911..99844914hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3811004
hg1911004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1819e212
Supporting Variantsessv9781010, essv9781004, essv9781001, essv9781005, essv9781003, essv9781006, essv9781009, essv9781007, essv9781008, essv9781002, essv9780999, essv9780998
Samples401162TM, 401956DQ, 401498HH, 400553PP, 400528LR, 401634CH, 400773GS, 400320RN, 400278PD, 400053LE, 400494ML, 400782IE
Known GenesCOQ3
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)esv3571318
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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