A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2004e59



Internal ID22763224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29622606..29622670hg38UCSC Ensembl
chr19:30113513..30113577hg19UCSC Ensembl
chr19:34805353..34805417hg18UCSC 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 Variants
Supporting Variantsesv3302455, esv3302793
SamplesNA18861, NA10851, NA12414, NA18603, NA18545, NA12004, NA18870, NA07357, NA18944, NA19138, NA18949, NA19137, NA19238, NA19239, NA12828, NA18951, NA12489, NA12878, NA18948, NA18907, NA19114, NA12144, NA18523, NA12043, NA11881, NA18952, NA19240, NA18501, NA19093, NA18505, NA19129, NA07000
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2004e59
Frequency
Sample Size185
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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