A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572570



Internal ID18700768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16086798..16166655hg38UCSC Ensembl
Innerchr8:15944307..16024164hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3879858
hg1979858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2050e212
Supporting Variantsessv9787291, essv9787292
Samples401949MN, 400586RD
Known GenesMSR1
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)esv3572570
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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