A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579280



Internal ID18707478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5764815..5788000hg38UCSC Ensembl
Innerchr11:5786045..5809230hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3823186
hg1923186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv312e212
Supporting Variantsessv9795687, essv9795694, essv9795688, essv9795680, essv9795699, essv9795697, essv9795682, essv9795695, essv9795690, essv9795677, essv9795693, essv9795685, essv9795684, essv9795681, essv9795691, essv9795686, essv9795692, essv9795698, essv9795679, essv9795683, essv9795696, essv9795701
Samples400247CL, 400424LN, 400970VE, 401079HJ, 400797ST, 401832MC, 401801LA, 400507VD, 401725MR, 401900RJ, 401274PA, 401526WB, 400375KA, 400758KP, 401586RS, 401952UH, 401514BA, 400837HN, 400156WT, 400246MG, 400501SJ, 401763SG
Known GenesOR52N1, OR52N5
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)esv3579280
Frequency
Sample Size873
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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