A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573434



Internal ID18354946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:2921891..2936762hg38UCSC Ensembl
InnerchrX:2839932..2854803hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3814872
hg1914872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9822776
Samples401448BJ
Known GenesARSD, ARSE
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)esv3573434
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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