A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7737967



Internal ID14450116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:58389795..58408167hg38UCSC Ensembl
Outerchr8:58389595..58408367hg38UCSC Ensembl
Innerchr8:59302354..59320726hg19UCSC Ensembl
Outerchr8:59302154..59320926hg19UCSC Ensembl
Innerchr8:59464908..59483280hg18UCSC Ensembl
Outerchr8:59464708..59483480hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3818773
hg1918773
hg1818773
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302815
Supporting Variants
SamplesNA18940
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7737967
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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