A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575372



Internal ID18703570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192795034..192802676hg38UCSC Ensembl
Innerchr1:192764164..192771806hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg387643
hg197643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9800534, essv9800545, essv9800522
Samples400131CM, 400793BR, 401943KA
Known Genes
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)esv3575372
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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