A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577532



Internal ID18359044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:153441652..153467949hg38UCSC Ensembl
InnerchrX:152707110..152733407hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3826298
hg1926298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9834057
Samples401594MP
Known GenesHAUS7, TREX2
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)esv3577532
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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