A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305469



Internal ID15152417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117288929..117288930hg38UCSC Ensembl
Innerchr8:117288878..117288981hg38UCSC Ensembl
Outerchr8:117288877..117288982hg38UCSC Ensembl
chr8:118301168..118301169hg19UCSC Ensembl
Innerchr8:118301117..118301220hg19UCSC Ensembl
Outerchr8:118301116..118301221hg19UCSC Ensembl
chr8:118370349..118370350hg18UCSC Ensembl
Innerchr8:118370401..118370298hg18UCSC Ensembl
Outerchr8:118370297..118370402hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758948, essv7743091, essv7760169, essv7761326
SamplesNA18916, NA18499, NA18501, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305469
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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