A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568724



Internal ID18696922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46751874..46808086hg38UCSC Ensembl
Innerchr3:46793364..46849576hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3856213
hg1956213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1371e212
Supporting Variantsessv9766806, essv9766807, essv9766810, essv9766809, essv9766813, essv9766805, essv9766811, essv9766804, essv9766808
Samples400231LP, 401785MJ, 401822TL, 401519SA, 400520FM, 400795CL, 400732MA, 401552BK, 400235MP
Known Genes
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)esv3568724
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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