A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579254



Internal ID18707452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4921674..4924872hg38UCSC Ensembl
Innerchr11:4942904..4946102hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg383199
hg193199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9795373, essv9795370, essv9795369, essv9795374, essv9795371, essv9795372, essv9795368, essv9795367
Samples401926MR, 401006ES, 401739BJ, 400265LK, 400422PN, 401611CD, 400072GR, 401681MS
Known GenesOR51G1
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)esv3579254
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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