A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1294e59



Internal ID22762514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72444759..72444895hg38UCSC Ensembl
chr14:72911467..72911603hg19UCSC Ensembl
chr14:71981220..71981356hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38137
hg19137
hg18137
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302600, esv3302758
SamplesNA18502, NA18592, NA18508, NA10851, NA12414, NA18545, NA19190, NA18870, NA18526, NA18563, NA18944, NA18519, NA12891, NA18942, NA18571, NA19138, NA19137, NA19238, NA19239, NA18638, NA18605, NA12878, NA18956, NA18572, NA18573, NA19114, NA11894, NA12892, NA18853, NA19099, NA19225, NA12144, NA18523, NA18570, NA18858, NA18945, NA18542, NA11881, NA19108, NA18952, NA19240, NA18943, NA07037, NA18501, NA12749, NA19093, NA19102, NA19129, NA18511, NA12776, NA18965, NA18577
Known GenesRGS6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1294e59
Frequency
Sample Size185
Observed Gain52
Observed Loss0
Observed Complex0
Frequencyn/a


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