A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9794982



Internal ID18683008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:114884410..115119719hg38UCSC Ensembl
Innerchr10:116644169..116879483hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38235310
hg19235315
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577749
Supporting Variants
Samples401690HA
Known GenesATRNL1, FAM160B1, TRUB1
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=192
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9794982
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