A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1298e212



Internal ID19008506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23850855..23862478hg38UCSC Ensembl
chr22:24193042..24204665hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3811624
hg1911624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568303, esv3568305, esv3568302, esv3568304
Samples401039PA, 401016IT, 400051MR, 400955BE
Known GenesSLC2A11
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)dgv1298e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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