A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582974



Internal ID18711172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:11860471..11868109hg38UCSC Ensembl
Innerchr18:11860470..11868108hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg387639
hg197639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9815467, essv9815465, essv9815470, essv9815469, essv9815468, essv9815463, essv9815471, essv9815464
Samples400917CG, 401820SD, 400453LN, 400606HW, 401006ES, 400663MD, 400524NJ, 401844ZD
Known GenesGNAL
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)esv3582974
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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