A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578263



Internal ID18359775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171050972..171059586hg38UCSC Ensembl
Innerchr1:171020113..171028727hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg388615
hg198615
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv116e212
Supporting Variantsessv9795789
Samples400533BB
Known GenesMROH9
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)esv3578263
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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