A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581835



Internal ID18363347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:94236123..94285003hg38UCSC Ensembl
Innerchr15:94779352..94828232hg19UCSC Ensembl
Cytoband15q26.2
Allele length
AssemblyAllele length
hg3848881
hg1948881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv759e212
Supporting Variantsessv9809407, essv9809406, essv9809405
Samples401749DJ, 400449PK, 400528LR
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)esv3581835
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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