A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2818e59



Internal ID22764038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:147967507..147967728hg38UCSC Ensembl
chr3:147685294..147685515hg19UCSC Ensembl
chr3:149167984..149168205hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38222
hg19222
hg18222
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302440, esv3302769
SamplesNA19190, NA18870, NA12750, NA18940, NA18916, NA18964, NA19238, NA12828, NA18579, NA19257, NA12144, NA19240, NA07051, NA12763, NA06986, NA18501, NA07000, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2818e59
Frequency
Sample Size185
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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