A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3199e59



Internal ID22764419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1591837..1592935hg38UCSC Ensembl
chr5:1591952..1593050hg19UCSC Ensembl
chr5:1644952..1646050hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3418475, esv3429404
SamplesNA19239, NA19240
Known GenesSDHAP3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3199e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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