A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2478e212



Internal ID20150934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136538974..136543860hg38UCSC Ensembl
chrX:135621133..135626019hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg384887
hg194887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574732, esv3574730
Samples400534ME, 400482MD, 400353ML, 401994BD, 400265LK, 400724CD, 400721DJ, 400671PP, 400471YS, 401567BD, 400271SR, 401735LE, 401254AE, 400152MR
Known GenesVGLL1
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)dgv2478e212
Frequency
Sample Size873
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer