A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1164e212



Internal ID20149620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113566873..113623232hg38UCSC Ensembl
chr2:114324450..114380809hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3856360
hg1956360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584021, esv3584022, esv3584024, esv3584023
Samples401021SC, 401052BM, 401733CG, 400225CJ, 400558BL, 401965TG, 401054VM, 400501SJ, 401354KM, 400209BS, 400494ML
Known GenesDDX11L2, FAM138B, RPL23AP7, WASH2P
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)dgv1164e212
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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