A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3404380



Internal ID15251342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109090975..109091001hg38UCSC Ensembl
Innerchr8:109090985..109090989hg38UCSC Ensembl
Outerchr8:109090959..109091017hg38UCSC Ensembl
chr8:110103204..110103230hg19UCSC Ensembl
Innerchr8:110103214..110103218hg19UCSC Ensembl
Outerchr8:110103188..110103246hg19UCSC Ensembl
chr8:110172380..110172406hg18UCSC Ensembl
Innerchr8:110172394..110172390hg18UCSC Ensembl
Outerchr8:110172364..110172422hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8941829, essv8941828, essv8941830, essv8941831
SamplesNA19190, NA18870, NA19108, NA18501
Known GenesTRHR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3404380
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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