A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2070e212



Internal ID22784997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41543262..41552999hg38UCSC Ensembl
chr8:41400781..41410518hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg389738
hg199738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572711, esv3572710
Samples401799DP, 401191MI, 400364SS, 400268SY, 401079HJ, 401302LJ, 401384BP, 401030GI, 400486LS, 400131CM, 401687LR, 402029KJ, 400507VD, 400040CN, 400702PA, 401475MK, 400265LK, 401504RJ, 401889FR, 401369GR, 400319HT, 400520FM, 401696CG, 401259LS, 401112LG, 400732MA, 401847RK, 400295PS, 400410CD, 401240ML, 402008MC, 400811SK, 400013TA, 400021ME, 401517PR, 400091BS
Known GenesGINS4
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)dgv2070e212
Frequency
Sample Size873
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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