A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571541



Internal ID18699739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168469766..168477847hg38UCSC Ensembl
Innerchr6:168870446..168878527hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg388082
hg198082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1854e212
Supporting Variantsessv9782666
Samples400653GP
Known GenesSMOC2
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)esv3571541
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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