A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7742958



Internal ID13439843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26671678..26671679hg38UCSC Ensembl
Innerchr8:26671633..26671724hg38UCSC Ensembl
Outerchr8:26671632..26671725hg38UCSC Ensembl
chr8:26529195..26529196hg19UCSC Ensembl
Innerchr8:26529150..26529241hg19UCSC Ensembl
Outerchr8:26529149..26529242hg19UCSC Ensembl
chr8:26585112..26585113hg18UCSC Ensembl
Innerchr8:26585158..26585067hg18UCSC Ensembl
Outerchr8:26585066..26585159hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303318
Supporting Variants
SamplesNA12287
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7742958
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