A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9829433



Internal ID18304124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95431636..95734260hg38UCSC Ensembl
Innerchr2:96097384..96400008hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38302625
hg19302625
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575267
Supporting Variants
Samples400705KK
Known GenesTRIM43, TRIM43B
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
CommentsNumber of probes=127
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9829433
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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