A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572970



Internal ID18701168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:122476398..122492010hg38UCSC Ensembl
Innerchr8:123488637..123504249hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3815613
hg1915613
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2113e212
Supporting Variantsessv9789832, essv9789834, essv9789835
Samples400545EW, 400093BL, 400994HJ
Known Genes
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)esv3572970
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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