A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701518



Internal ID13644417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144356292..144356292hg38UCSC Ensembl
Innerchr8:144356291..144356293hg38UCSC Ensembl
Outerchr8:144356242..144356342hg38UCSC Ensembl
chr8:145579952..145579952hg19UCSC Ensembl
Innerchr8:145579951..145579953hg19UCSC Ensembl
Outerchr8:145579902..145580002hg19UCSC Ensembl
chr8:145550760..145550760hg18UCSC Ensembl
Innerchr8:145550761..145550759hg18UCSC Ensembl
Outerchr8:145550710..145550810hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3382509
Supporting Variants
SamplesNA12878
Known GenesFBXL6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701518
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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