A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579955



Internal ID18361467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:128463247..128464858hg38UCSC Ensembl
Innerchr11:128333142..128334753hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381612
hg191612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9799110, essv9799107, essv9799106, essv9799104, essv9799109, essv9799103, essv9799105, essv9799108
Samples400199SA, 401582GG, 400069CN, 401295HB, 401646MC, 401377MA, 401899MB, 400425SL
Known GenesETS1
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)esv3579955
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