A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653586



Internal ID15109697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61984638..61984638hg38UCSC Ensembl
Innerchr8:61984637..61984639hg38UCSC Ensembl
Outerchr8:61984588..61984688hg38UCSC Ensembl
chr8:62897197..62897197hg19UCSC Ensembl
Innerchr8:62897196..62897198hg19UCSC Ensembl
Outerchr8:62897147..62897247hg19UCSC Ensembl
chr8:63059751..63059751hg18UCSC Ensembl
Innerchr8:63059752..63059750hg18UCSC Ensembl
Outerchr8:63059701..63059801hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg382747
hg192747
hg182747
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3380236
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653586
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer