A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576732



Internal ID18704930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:6537109..6740740hg38UCSC Ensembl
InnerchrX:6455150..6658781hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38203632
hg19203632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2202e212
Supporting Variantsessv9823005
Samples400888MS
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)esv3576732
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