A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2418e212



Internal ID22785345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123929210..123930978hg38UCSC Ensembl
chrX:123063060..123064828hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381769
hg191769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574515, esv3574514
Samples400132HN, 400379BB, 400050RL
Known Genes
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)dgv2418e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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