A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575119



Internal ID18703317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:164657821..164659073hg38UCSC Ensembl
Innerchr1:164627058..164628310hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381253
hg191253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9793944, essv9793955
Samples401026AM, 400732MA
Known GenesPBX1
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)esv3575119
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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