A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570373



Internal ID18698571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:117930272..117947467hg38UCSC Ensembl
Innerchr5:117265967..117283162hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3817196
hg1917196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1640e212
Supporting Variantsessv9775929, essv9775921, essv9775926, essv9775919, essv9775928, essv9775924, essv9775923, essv9775927, essv9775920, essv9775925
Samples401742KB, 400558BL, 401869BG, 400022WA, 400416KA, 400064WJ, 400914ER, 400135DR, 402060PD, 401607LL
Known GenesLOC102467224
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)esv3570373
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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