A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303057



Internal ID15150005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134867658..134867792hg38UCSC Ensembl
Innerchr8:134867725..134867725hg38UCSC Ensembl
Outerchr8:134867558..134867892hg38UCSC Ensembl
chr8:135879901..135880035hg19UCSC Ensembl
Innerchr8:135879968..135879968hg19UCSC Ensembl
Outerchr8:135879801..135880135hg19UCSC Ensembl
chr8:135949083..135949217hg18UCSC Ensembl
Innerchr8:135949150..135949150hg18UCSC Ensembl
Outerchr8:135948983..135949317hg18UCSC 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 Variantsdgv4247e59
Supporting Variantsessv7737683, essv7734947, essv7731957, essv7735255, essv7732928, essv7737221, essv7738749, essv7735174, essv7739110, essv7734280, essv7733905, essv7733224, essv7737427, essv7734586, essv7738046, essv7733424, essv7736860, essv7736040, essv7731805, essv7733056, essv7733619, essv7739150, essv7732415, essv7737730, essv7734560, essv7736547, essv7737598, essv7738864
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)esv3303057
Frequency
Sample Size185
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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