A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577409



Internal ID18358921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:136508165..136512467hg38UCSC Ensembl
InnerchrX:135590324..135594626hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg384303
hg194303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9832160
Samples401074CM
Known GenesHTATSF1
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)esv3577409
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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