A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7752249



Internal ID13000571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130535487..130535488hg38UCSC Ensembl
Innerchr8:130535435..130535540hg38UCSC Ensembl
Outerchr8:130535434..130535541hg38UCSC Ensembl
chr8:131547733..131547734hg19UCSC Ensembl
Innerchr8:131547681..131547786hg19UCSC Ensembl
Outerchr8:131547680..131547787hg19UCSC Ensembl
chr8:131616915..131616916hg18UCSC Ensembl
Innerchr8:131616968..131616863hg18UCSC Ensembl
Outerchr8:131616862..131616969hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38154
hg19154
hg18154
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304697
Supporting Variants
SamplesNA06986
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7752249
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