A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2219e212



Internal ID22785146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11128246..11130028hg38UCSC Ensembl
chrX:11146366..11148148hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381783
hg191783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576767, esv3576768
Samples400068PW, 400834SS, 400934LA, 400600DP, 401965TG, 400333CC, 400002HK, 400845ML, 400173KP, 401510DG
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)dgv2219e212
Frequency
Sample Size873
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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