A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2392e212



Internal ID22785319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119518683..119526597hg38UCSC Ensembl
chrX:118652646..118660560hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg387915
hg197915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577173, esv3577171, esv3577176, esv3577174
Samples400953MR, 400134WK, 401386WA, 401702GB
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)dgv2392e212
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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