A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv152e212



Internal ID20148608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231400194..231403649hg38UCSC Ensembl
chr1:231535940..231539395hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383456
hg193456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578467, esv3578468
Samples400360SM, 401786WD
Known GenesEGLN1
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)dgv152e212
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