A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582933



Internal ID18364445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:673646..677339hg38UCSC Ensembl
Innerchr18:673646..677339hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg383694
hg193694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv967e212
Supporting Variantsessv9815383, essv9815375, essv9815379, essv9815382, essv9815373, essv9815386, essv9815385, essv9815384, essv9815376, essv9815371, essv9815372, essv9815380, essv9815374, essv9815381, essv9815378
Samples400534ME, 400619MP, 401380OL, 401302LJ, 401457WK, 401857VG, 400871CM, 400385LJ, 400609FJ, 401499JR, 402033WD, 401432SB, 401454CD, 401458RT, 401246HH
Known GenesENOSF1
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)esv3582933
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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