A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8940056



Internal ID14142958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58993883..58993897hg38UCSC Ensembl
Innerchr8:58993876..58993901hg38UCSC Ensembl
Outerchr8:58993862..58993915hg38UCSC Ensembl
chr8:59906442..59906456hg19UCSC Ensembl
Innerchr8:59906435..59906460hg19UCSC Ensembl
Outerchr8:59906421..59906474hg19UCSC Ensembl
chr8:60068996..60069010hg18UCSC Ensembl
Innerchr8:60069014..60068989hg18UCSC Ensembl
Outerchr8:60068975..60069028hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3371312
Supporting Variants
SamplesNA18570
Known GenesTOX
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8940056
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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