A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576788



Internal ID18358300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:17489227..17494750hg38UCSC Ensembl
InnerchrX:17507350..17512873hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg385524
hg195524
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9823969, essv9823974, essv9823976, essv9823968, essv9823972, essv9823971, essv9823975, essv9823970, essv9823973
Samples400238BB, 400834SS, 400416KA, 400937OR, 401026AM, 401427CB, 400818BL, 400503HD, 401856GC
Known GenesNHS
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)esv3576788
Frequency
Sample Size873
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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