A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399198



Internal ID15246161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144356250..144356250hg38UCSC Ensembl
Innerchr8:144356249..144356251hg38UCSC Ensembl
Outerchr8:144356190..144356300hg38UCSC Ensembl
chr8:145579910..145579910hg19UCSC Ensembl
Innerchr8:145579909..145579911hg19UCSC Ensembl
Outerchr8:145579850..145579960hg19UCSC Ensembl
chr8:145550718..145550718hg18UCSC Ensembl
Innerchr8:145550719..145550717hg18UCSC Ensembl
Outerchr8:145550658..145550768hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8842003
SamplesNA12878
Known GenesFBXL6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399198
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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