A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574960



Internal ID18703158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:149408841..149416791hg38UCSC Ensembl
InnerchrX:148490372..148498322hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg387951
hg197951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2520e212
Supporting Variantsessv9833428, essv9833427
Samples401518VK, 400800MW
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)esv3574960
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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