A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864894



Internal ID13317544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122743509..122743520hg38UCSC Ensembl
Innerchr8:122743511..122743518hg38UCSC Ensembl
Outerchr8:122743500..122743529hg38UCSC Ensembl
chr8:123755748..123755759hg19UCSC Ensembl
Innerchr8:123755750..123755757hg19UCSC Ensembl
Outerchr8:123755739..123755768hg19UCSC Ensembl
chr8:123824929..123824940hg18UCSC Ensembl
Innerchr8:123824938..123824931hg18UCSC Ensembl
Outerchr8:123824920..123824949hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3350033
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864894
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