A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362225



Internal ID15209203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81543828..81543841hg38UCSC Ensembl
Innerchr8:81543827..81543842hg38UCSC Ensembl
Outerchr8:81543814..81543855hg38UCSC Ensembl
chr8:82456063..82456076hg19UCSC Ensembl
Innerchr8:82456062..82456077hg19UCSC Ensembl
Outerchr8:82456049..82456090hg19UCSC Ensembl
chr8:82618618..82618631hg18UCSC Ensembl
Innerchr8:82618632..82618617hg18UCSC Ensembl
Outerchr8:82618604..82618645hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38241
hg19241
hg18241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8940723, essv8940722, essv8940725, essv8940721
SamplesNA18861, NA18916, NA18499, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362225
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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