A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731504



Internal ID13627136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134867663..134867783hg38UCSC Ensembl
Innerchr8:134867722..134867723hg38UCSC Ensembl
Outerchr8:134867563..134867883hg38UCSC Ensembl
chr8:135879906..135880026hg19UCSC Ensembl
Innerchr8:135879965..135879966hg19UCSC Ensembl
Outerchr8:135879806..135880126hg19UCSC Ensembl
chr8:135949088..135949208hg18UCSC Ensembl
Innerchr8:135949148..135949147hg18UCSC Ensembl
Outerchr8:135948988..135949308hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38121
hg19121
hg18121
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302691
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731504
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer