A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570221



Internal ID18698419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78813353..78819688hg38UCSC Ensembl
Innerchr5:78109176..78115511hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg386336
hg196336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1619e212
Supporting Variantsessv9775381, essv9775382
Samples401297KC, 400013TA
Known GenesARSB
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)esv3570221
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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