A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307729



Internal ID15154677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:97258579..97258580hg38UCSC Ensembl
Innerchr8:97258542..97258617hg38UCSC Ensembl
Outerchr8:97258541..97258618hg38UCSC Ensembl
chr8:98270807..98270808hg19UCSC Ensembl
Innerchr8:98270770..98270845hg19UCSC Ensembl
Outerchr8:98270769..98270846hg19UCSC Ensembl
chr8:98339983..98339984hg18UCSC Ensembl
Innerchr8:98340021..98339946hg18UCSC Ensembl
Outerchr8:98339945..98340022hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38256
hg19256
hg18256
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758897, essv7742656, essv7756119, essv7741651, essv7744295, essv7757589
SamplesNA18502, NA18870, NA18510, NA18582, NA18964, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307729
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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