A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323092



Internal ID15170066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99770345..99770364hg38UCSC Ensembl
Innerchr8:99770341..99770368hg38UCSC Ensembl
Outerchr8:99770322..99770387hg38UCSC Ensembl
chr8:100782573..100782592hg19UCSC Ensembl
Innerchr8:100782569..100782596hg19UCSC Ensembl
Outerchr8:100782550..100782615hg19UCSC Ensembl
chr8:100851749..100851768hg18UCSC Ensembl
Innerchr8:100851772..100851745hg18UCSC Ensembl
Outerchr8:100851726..100851791hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9640336
SamplesNA12045
Known GenesVPS13B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323092
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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