A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583086



Internal ID18711284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58263947..58276863hg38UCSC Ensembl
Innerchr18:55931179..55944095hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3812917
hg1912917
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv990e212
Supporting Variantsessv9815916, essv9815920, essv9815915, essv9815925, essv9815923, essv9815918, essv9815921, essv9815924, essv9815919, essv9815926, essv9815917
Samples400336BG, 400493KH, 401550SP, 401994BD, 402056KD, 401801LA, 401900RJ, 400571WV, 401884WJ, 400135DR, 401056TJ
Known GenesNEDD4L
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)esv3583086
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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