A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302455



Internal ID15149402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29622606..29622670hg38UCSC Ensembl
Innerchr19:29622638..29622638hg38UCSC Ensembl
Outerchr19:29622506..29622770hg38UCSC Ensembl
chr19:30113513..30113577hg19UCSC Ensembl
Innerchr19:30113545..30113545hg19UCSC Ensembl
Outerchr19:30113413..30113677hg19UCSC Ensembl
chr19:34805353..34805417hg18UCSC Ensembl
Innerchr19:34805385..34805385hg18UCSC Ensembl
Outerchr19:34805253..34805517hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2004e59
Supporting Variantsessv7730977, essv7731566, essv7731274, essv7731456
SamplesNA19238, NA19239, NA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302455
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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