A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574907



Internal ID18356419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:147917058..147918889hg38UCSC Ensembl
InnerchrX:146998576..147000407hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg381832
hg191832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2506e212
Supporting Variantsessv9832975, essv9832973, essv9832974
Samples400186WC, 401958MF, 400719TM
Known GenesFMR1, FMR1-AS1
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)esv3574907
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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