A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575186



Internal ID18703384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13062806..13139820hg38UCSC Ensembl
Innerchr2:13202931..13279945hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3877015
hg1977015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1101e212
Supporting Variantsessv9814711, essv9814767, essv9814667, essv9814733, essv9814700, essv9814689, essv9814656, essv9814678, essv9814722, essv9814756, essv9814789, essv9814778, essv9814744
Samples400287BP, 400512LR, 400852WJ, 400934LA, 400558BL, 401297KC, 401908YM, 400333CC, 401791FG, 400093BL, 401311GL, 400249BC, 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)esv3575186
Frequency
Sample Size873
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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