A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4247e59



Internal ID22765467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134867658..134867792hg38UCSC Ensembl
chr8:135879901..135880035hg19UCSC Ensembl
chr8:135949083..135949217hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3303057, esv3302691
SamplesNA18947, NA18861, NA12004, NA18870, NA12750, NA18563, NA19005, NA12891, NA18571, NA19138, NA19137, NA19238, NA12044, NA12828, NA18973, NA18605, NA19210, NA12878, NA12892, NA19099, NA19257, NA18523, NA18542, NA18952, NA12763, NA18501, NA19129, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv4247e59
Frequency
Sample Size185
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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