A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1517e212



Internal ID20149973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101156835..101165549hg38UCSC Ensembl
chr4:102077992..102086706hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg388715
hg198715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569632, esv3569630
Samples401414CR, 401783BD
Known GenesPPP3CA
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)dgv1517e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer