A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3428e59



Internal ID22764648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176799245..176802243hg38UCSC Ensembl
chr5:176226246..176229244hg19UCSC Ensembl
chr5:176158852..176161850hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3418396, esv3344150
SamplesNA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3428e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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