A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3273e59



Internal ID22764493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50109808..50145859hg38UCSC Ensembl
chr5:49405642..49441693hg19UCSC Ensembl
chr5:49441352..49477450hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3836052
hg1936052
hg1836099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3334856, esv3403552, esv3365495, esv3451841, esv3353509
SamplesNA12891, NA19239, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3273e59
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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