A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2548e212



Internal ID20151004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155325457..155336409hg38UCSC Ensembl
chrX:154554773..154565718hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3810953
hg1910946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577570, esv3577572
Samples401495NR, 400854SG
Known GenesCLIC2
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)dgv2548e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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