A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv344e212



Internal ID20148800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44278235..44285381hg38UCSC Ensembl
chr11:44299785..44306931hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg387147
hg197147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579498, esv3579499, esv3579497
Samples401602PR, 401022ML, 401873BK
Known GenesALX4
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)dgv344e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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