A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3218e59



Internal ID22764438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6446839..6448637hg38UCSC Ensembl
chr5:6446952..6448750hg19UCSC Ensembl
chr5:6499952..6501750hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3364872, esv3417151, esv3394166
SamplesNA19238, NA19239, NA19240
Known GenesUBE2QL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3218e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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