A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573600



Internal ID18355112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:15249260..15272357hg38UCSC Ensembl
InnerchrX:15267382..15290479hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3823098
hg1923098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2226e212
Supporting Variantsessv9823703, essv9823702
Samples400379BB, 401017SC
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)esv3573600
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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