A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570210



Internal ID18351722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78498962..78503410hg38UCSC Ensembl
Innerchr5:77794785..77799233hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg384449
hg194449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9775281, essv9775282
Samples401442WR, 401203MP
Known GenesLHFPL2
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)esv3570210
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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