A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583246



Internal ID18711444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12234895..12253502hg38UCSC Ensembl
Innerchr19:12345710..12364317hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3818608
hg1918608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1021e212
Supporting Variantsessv9816783, essv9816782
Samples400834SS, 400598DA
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)esv3583246
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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