A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570803



Internal ID18699001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:22049458..22071062hg38UCSC Ensembl
Innerchr6:22049687..22071291hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3821605
hg1921605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1718e212
Supporting Variantsessv9778259, essv9778261, essv9778260, essv9778262
Samples400203NA, 401477ST, 400543CK, 400654YW
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)esv3570803
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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