A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571351



Internal ID18699549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:110073402..110094212hg38UCSC Ensembl
Innerchr6:110394605..110415415hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3820811
hg1920811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1824e212
Supporting Variantsessv9781362, essv9781372, essv9781371, essv9781368, essv9781361, essv9781366, essv9781360, essv9781364, essv9781369, essv9781363, essv9781365, essv9781370
Samples401191MI, 400247CL, 401460LW, 400949AM, 400899NK, 401030GI, 401695BT, 402012RR, 401726LW, 400978JG, 401040KM, 401510DG
Known Genes
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)esv3571351
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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