A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv293e59



Internal ID22761513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227414418..227414586hg38UCSC Ensembl
chr1:227602119..227602287hg19UCSC Ensembl
chr1:225668742..225668910hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38169
hg19169
hg18169
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302979, esv3302541
SamplesNA12717, NA12750, NA18558, NA11918, NA12878, NA12892, NA07051, NA12763
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv293e59
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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