A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574842



Internal ID18703040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54226365..54248358hg38UCSC Ensembl
Innerchr19:54730238..54752217hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3821994
hg1921980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1075e212
Supporting Variantsessv9818129, essv9818116, essv9818109, essv9818114, essv9818095, essv9818093, essv9818120, essv9818098, essv9818115, essv9818127, essv9818096, essv9818128, essv9818107, essv9818123, essv9818110, essv9818126, essv9818094, essv9818121, essv9818119
Samples401636WR, 401465TB, 401852SK, 401640WJ, 401400NP, 400114GR, 401299ST, 400221VM, 400655WB, 401491BB, 401390DG, 400675HC, 400033KC, 401540NA, 401812HG, 401493HC, 401011PJ, 400013TA, 400138LA
Known GenesLILRA6
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)esv3574842
Frequency
Sample Size873
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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