A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579388



Internal ID18360900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:15977218..15978701hg38UCSC Ensembl
Innerchr11:15998764..16000247hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381484
hg191484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9796209, essv9796210
Samples400455SJ, 401054VM
Known GenesSOX6
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)esv3579388
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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