A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1614e212



Internal ID20150070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75017050..75045224hg38UCSC Ensembl
chr5:74312875..74341049hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3828175
hg1928175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570199, esv3570197, esv3570194, esv3570196
Samples400949AM, 402038MR, 401820SD, 400082SD, 400618GC
Known GenesGCNT4
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)dgv1614e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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