A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574405



Internal ID18702603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119205633..119213592hg38UCSC Ensembl
InnerchrX:118339596..118347555hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg387960
hg197960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9829686, essv9829689, essv9829690, essv9829687
Samples400599CP, 400620MT, 401504RJ, 401797LS
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)esv3574405
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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