A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1668e212



Internal ID22784595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176004789..176050271hg38UCSC Ensembl
chr5:175431792..175477274hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3845483
hg1945483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570566, esv3570563
Samples401110GJ, 401403TD, 401733CG, 400453LN, 401252AE, 400270BD, 401714BM, 401863BD, 400838AM, 401825TH, 400354TJ, 401628GC, 400782IE
Known GenesLOC100996385
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)dgv1668e212
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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