A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578556



Internal ID18706754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248589883..248631095hg38UCSC Ensembl
Innerchr1:248753184..248794396hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3841213
hg1941213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv167e212
Supporting Variantsessv9810977, essv9811076, essv9811043, essv9810999, essv9811032, essv9810988, essv9811065, essv9811010, essv9811090, essv9811054, essv9811021
Samples401052BM, 400683EC, 400797ST, 400493KH, 400743LS, 400385LJ, 401732HW, 400955BE, 401563TK, 401039PA, 400474GF
Known GenesOR2T10, OR2T11
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)esv3578556
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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