A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2248e212



Internal ID22785175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:29801116..29804970hg38UCSC Ensembl
chrX:29819233..29823087hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg383855
hg193855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573735, esv3573734
Samples400911GA, 400627CC, 400066MA, 401550SP
Known GenesIL1RAPL1
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)dgv2248e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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