A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578579



Internal ID18706777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:898782..934856hg38UCSC Ensembl
Innerchr10:944722..980796hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3836075
hg1936075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv170e212
Supporting Variantsessv9791938, essv9791940, essv9791942, essv9791946, essv9791941, essv9791939, essv9791943, essv9791945, essv9791947
Samples401487FW, 401783BD, 400073HT, 400320RN, 400352CA, 401939GD, 401295HB, 401277RA, 400072GR
Known GenesLARP4B
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)esv3578579
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer