A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569120



Internal ID18350632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145211674..145249637hg38UCSC Ensembl
Innerchr1:144336555..144371839hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3837964
hg1935285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv89e212
Supporting Variantsessv9787022, essv9787033
Samples401393JW, 400093BL
Known GenesLINC00623, LOC100288142, LOC728875, PPIAL4A, PPIAL4B, PPIAL4C
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)esv3569120
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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