A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2545e212



Internal ID22785472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154729063..154735281hg38UCSC Ensembl
chrX:153957338..153963556hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg386219
hg196219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577565, esv3577567, esv3577566, esv3577564
Samples400889CM, 40031BA, 400292LP, 400362TV, 401587RC, 400168HC, 401135CS, 400835FD
Known GenesGAB3
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)dgv2545e212
Frequency
Sample Size873
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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