A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443615



Internal ID15290568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134723527..134726225hg38UCSC Ensembl
Innerchr8:134724527..134725225hg38UCSC Ensembl
Outerchr8:134722527..134727225hg38UCSC Ensembl
chr8:135735770..135738468hg19UCSC Ensembl
Innerchr8:135736770..135737468hg19UCSC Ensembl
Outerchr8:135734770..135739468hg19UCSC Ensembl
chr8:135804952..135807650hg18UCSC Ensembl
Innerchr8:135805952..135806650hg18UCSC Ensembl
Outerchr8:135803952..135808650hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696177
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443615
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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