A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583114



Internal ID18711312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:64615911..64633450hg38UCSC Ensembl
Innerchr18:62283146..62300685hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3817540
hg1917540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv997e212
Supporting Variantsessv9816081, essv9816082, essv9816080, essv9816083, essv9816084, essv9816079, essv9816078, essv9816091, essv9816087, essv9816085, essv9816076, essv9816090, essv9816086
Samples400247CL, 400570RW, 400073HT, 401084TD, 401623SN, 400381CA, 401952UH, 400854SG, 400329HJ, 400410CD, 401358VP, 400494ML, 401102RD
Known Genes
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)esv3583114
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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