A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574514



Internal ID18702712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:123929717..123930978hg38UCSC Ensembl
InnerchrX:123063567..123064828hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381262
hg191262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2418e212
Supporting Variantsessv9830242, essv9830241
Samples400379BB, 400050RL
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)esv3574514
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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