A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407465



Internal ID15254427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130560797..130560805hg38UCSC Ensembl
Innerchr8:130560799..130560803hg38UCSC Ensembl
Outerchr8:130560795..130560807hg38UCSC Ensembl
chr8:131573043..131573051hg19UCSC Ensembl
Innerchr8:131573045..131573049hg19UCSC Ensembl
Outerchr8:131573041..131573053hg19UCSC Ensembl
chr8:131642225..131642233hg18UCSC Ensembl
Innerchr8:131642227..131642231hg18UCSC Ensembl
Outerchr8:131642223..131642235hg18UCSC Ensembl
Cytoband8q24.22
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 Variantsessv7864903
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407465
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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