A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574756



Internal ID18702954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:137581072..137583279hg38UCSC Ensembl
InnerchrX:136663231..136665438hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg382208
hg192208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2483e212
Supporting Variantsessv9832285, essv9832284
Samples401240ML, 400835FD
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)esv3574756
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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