A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9825813



Internal ID18279575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:52894443..53071885hg38UCSC Ensembl
InnerchrX:52923472..53101067hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38177443
hg19177596
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576878
Supporting Variants
Samples400043HC
Known GenesFAM156A, FAM156B, GPR173
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
CommentsNumber of probes=106
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9825813
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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