A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578252



Internal ID18706450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169246806..169269552hg38UCSC Ensembl
Innerchr1:169216044..169238790hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3822747
hg1922747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv112e212
Supporting Variantsessv9794155, essv9794166
Samples401797LS, 400261RN
Known GenesNME7
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)esv3578252
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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