A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1417e212



Internal ID20149873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148707052..148710436hg38UCSC Ensembl
chr3:148424839..148428223hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg383385
hg193385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569049, esv3569050
Samples401074CM, 400582WS, 400064WJ, 400811SK
Known GenesAGTR1
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)dgv1417e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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