A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570424



Internal ID18698622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135873219..135879127hg38UCSC Ensembl
Innerchr5:135208908..135214816hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg385909
hg195909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9776096, essv9776094, essv9776093, essv9776095
Samples401489CB, 400347VJ, 401200BD, 400508RD
Known GenesSLC25A48
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3570424
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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