A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570795



Internal ID18352307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:21808236..21816144hg38UCSC Ensembl
Innerchr6:21808467..21816375hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg387909
hg197909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9778241, essv9778233, essv9778232, essv9778235, essv9778239, essv9778238, essv9778240, essv9778237, essv9778236, essv9778242
Samples400294HD, 401384BP, 401918CA, 401214BJ, 401620BA, 401377MA, 401979TB, 401594MP, 400978JG, 401458RT
Known GenesCASC15
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)esv3570795
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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