A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9776138



Internal ID18647649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139421835..139437537hg38UCSC Ensembl
Innerchr5:138757524..138773226hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3815703
hg1915703
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3570440
Supporting Variants
Samples400615RI
Known GenesDNAJC18
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=16
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9776138
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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