A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1101e212



Internal ID22784028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13062806..13147855hg38UCSC Ensembl
chr2:13202931..13287980hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3885050
hg1985050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575203, esv3575197, esv3575204, esv3575186
Samples400287BP, 400512LR, 400852WJ, 400934LA, 400558BL, 401297KC, 401908YM, 400333CC, 401791FG, 400093BL, 401311GL, 400249BC, 401711WS, 401369GR, 401898DS, 401149VA
Known Genes
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)dgv1101e212
Frequency
Sample Size873
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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