A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305532



Internal ID15152480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81543831..81543832hg38UCSC Ensembl
Innerchr8:81543804..81543859hg38UCSC Ensembl
Outerchr8:81543803..81543860hg38UCSC Ensembl
chr8:82456066..82456067hg19UCSC Ensembl
Innerchr8:82456039..82456094hg19UCSC Ensembl
Outerchr8:82456038..82456095hg19UCSC Ensembl
chr8:82618621..82618622hg18UCSC Ensembl
Innerchr8:82618649..82618594hg18UCSC Ensembl
Outerchr8:82618593..82618650hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38245
hg19245
hg18245
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7761792, essv7754603, essv7743111, essv7761461, essv7746059, essv7758860
SamplesNA18861, NA18916, NA19238, NA18499, NA19240, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305532
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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