A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578917



Internal ID18360429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55606543..55685084hg38UCSC Ensembl
Innerchr11:55374019..55452560hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3878542
hg1978542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv369e212
Supporting Variantsessv9797736, essv9797733, essv9797746, essv9797737, essv9797739, essv9797730, essv9797751, essv9797740, essv9797727, essv9797741, essv9797749, essv9797729, essv9797744, essv9797742, essv9797726, essv9797731, essv9797748, essv9797734
Samples400906BR, 401931JL, 401096SL, 400059SV, 400545EW, 401634CH, 401165SB, 400653GP, 401979TB, 400050RL, 401075MN, 400520FM, 400795CL, 400542EG, 401881TJ, 401354KM, 401517PR, 400494ML
Known GenesOR4C6, OR4P4, OR4S2
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)esv3578917
Frequency
Sample Size873
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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