A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9794732



Internal ID18316479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:103390805..103457999hg38UCSC Ensembl
Innerchr10:105150562..105217756hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg3867195
hg1967195
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577671
Supporting Variants
Samples401084TD
Known GenesCALHM1, CALHM2, MIR1307, PDCD11, USMG5
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=72
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9794732
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