A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307591



Internal ID14807853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86610457..86610458hg38UCSC Ensembl
Innerchr8:86610429..86610486hg38UCSC Ensembl
Outerchr8:86610428..86610487hg38UCSC Ensembl
chr8:87622685..87622686hg19UCSC Ensembl
Innerchr8:87622657..87622714hg19UCSC Ensembl
Outerchr8:87622656..87622715hg19UCSC Ensembl
chr8:87691801..87691802hg18UCSC Ensembl
Innerchr8:87691830..87691773hg18UCSC Ensembl
Outerchr8:87691772..87691831hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38232
hg19232
hg18232
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744594, essv7741457, essv7763019, essv7761473, essv7749812, essv7740904, essv7747750
SamplesNA18498, NA19137, NA18871, NA18907, NA18499, NA19225, NA19093
Known GenesCNGB3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307591
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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