A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1179e212



Internal ID22784106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165286978..165297370hg38UCSC Ensembl
chr2:166143488..166153880hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3810393
hg1910393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584146, esv3584145
Samples400364SS, 401146US, 40031BA, 400906BR, 401093VL, 401308LD, 401924ST, 400482MD, 401006ES, 400929MM, 400093BL, 400758KP, 401864CV, 401513KC, 401391PJ, 401016IT, 400246MG, 401288LD, 401287CF, 400130HA
Known GenesSCN2A
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)dgv1179e212
Frequency
Sample Size873
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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