A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407944



Internal ID15254906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:71811797..71811822hg38UCSC Ensembl
Innerchr8:71811790..71811829hg38UCSC Ensembl
Outerchr8:71811765..71811854hg38UCSC Ensembl
chr8:72724032..72724057hg19UCSC Ensembl
Innerchr8:72724025..72724064hg19UCSC Ensembl
Outerchr8:72724000..72724089hg19UCSC Ensembl
chr8:72886586..72886611hg18UCSC Ensembl
Innerchr8:72886618..72886579hg18UCSC Ensembl
Outerchr8:72886554..72886643hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38249
hg19249
hg18249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677159, essv8677158
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407944
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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