A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9776371



Internal ID18327541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149240635..149244400hg38UCSC Ensembl
Innerchr5:148620198..148623963hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg383766
hg193766
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3570490
Supporting Variants
Samples401413RG
Known GenesABLIM3
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9776371
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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