A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576926



Internal ID18358438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:72803009..72916272hg38UCSC Ensembl
InnerchrX:72022843..72136113hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38113264
hg19113271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9826182, essv9826180, essv9826181, essv9826183
Samples401824MM, 400360SM, 400203NA, 401262RR
Known GenesDMRTC1, DMRTC1B
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)esv3576926
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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