A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9825581



Internal ID18656050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:46486650..46492703hg38UCSC Ensembl
InnerchrX:46346085..46352138hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg386054
hg196054
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576855
Supporting Variants
Samples400869BK
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
CommentsNumber of probes=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9825581
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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