A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583330



Internal ID18711528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:28001904..28216965hg38UCSC Ensembl
Innerchr19:28492811..28707872hg19UCSC Ensembl
Cytoband19q11
Allele length
AssemblyAllele length
hg38215062
hg19215062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9817121, essv9817120
Samples401478RD, 402024BB
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)esv3583330
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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