A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570558



Internal ID18352070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:173982950..173990729hg38UCSC Ensembl
Innerchr5:173409953..173417732hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg387780
hg197780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1667e212
Supporting Variantsessv9776840, essv9776841
Samples400837HN, 400532MH
Known GenesC5orf47
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)esv3570558
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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