A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573599



Internal ID18355111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:15259532..15272357hg38UCSC Ensembl
InnerchrX:15277654..15290479hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3812826
hg1912826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2227e212
Supporting Variantsessv9823706, essv9823705, essv9823704
Samples401038LN, 400582WS, 400238BB
Known GenesASB9
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)esv3573599
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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