A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577914



Internal ID18359426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71018585..71027674hg38UCSC Ensembl
Innerchr1:71484268..71493357hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg389090
hg199090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9768478, essv9768467
Samples401993HM, 401736BF
Known GenesPTGER3
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)esv3577914
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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