A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340473



Internal ID14840743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109337354..109337366hg38UCSC Ensembl
Innerchr8:109337356..109337364hg38UCSC Ensembl
Outerchr8:109337352..109337368hg38UCSC Ensembl
chr8:110349583..110349595hg19UCSC Ensembl
Innerchr8:110349585..110349593hg19UCSC Ensembl
Outerchr8:110349581..110349597hg19UCSC Ensembl
chr8:110418759..110418771hg18UCSC Ensembl
Innerchr8:110418761..110418769hg18UCSC Ensembl
Outerchr8:110418757..110418773hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864884
SamplesNA12005
Known GenesENY2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340473
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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