A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578018



Internal ID18359530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:97313979..97332598hg38UCSC Ensembl
Innerchr1:97779535..97798154hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3818620
hg1918620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9777255, essv9777233, essv9777200, essv9777299, essv9777188, essv9777288, essv9777222, essv9777211, essv9777311, essv9777266, essv9777244, essv9777277
Samples401571SD, 400558BL, 400688FL, 400136DM, 401068SD, 401079HJ, 401207DA, 401038LN, 400134WK, 401191MI, 401113MJ, 401711WS
Known GenesDPYD, DPYD-AS1
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)esv3578018
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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