A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv1022e212

Internal ID20149478
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13423850..13442383hg38UCSC Ensembl
chr19:13534664..13553197hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583257, esv3583255, esv3583256
Samples402054BD, 400043HC, 400688FL, 401489CB, 401801LA, 401922MW, 401354KM, 400739SS, 400430KV
Known GenesCACNA1A
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
Pubmed ID25503493
Accession Number(s)dgv1022e212
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0

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