A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2288e212



Internal ID20150744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48236554..48263532hg38UCSC Ensembl
chrX:48095989..48122967hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3826979
hg1926979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573940, esv3573941
Samples402060PD, 401054VM
Known GenesSSX1
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)dgv2288e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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