A curated catalogue of human genomic structural variation

Variant Details

Variant: essv9834979

Internal ID18339303
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:109746742..110225841hg38UCSC Ensembl
Innerchr2:110504319..110983418hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584010
Supporting Variants
Known GenesLIMS3, LIMS3L, LIMS3-LOC440895, LINC00116, LINC01123, LOC100288570, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1, RGPD5, RGPD6
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=115
Pubmed ID25503493
Accession Number(s)essv9834979
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0

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