A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864889



Internal ID13317534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116554752..116554760hg38UCSC Ensembl
Innerchr8:116554735..116554777hg38UCSC Ensembl
Outerchr8:116554727..116554785hg38UCSC Ensembl
chr8:117566990..117566998hg19UCSC Ensembl
Innerchr8:117566973..117567015hg19UCSC Ensembl
Outerchr8:117566965..117567023hg19UCSC Ensembl
chr8:117636171..117636179hg18UCSC Ensembl
Innerchr8:117636196..117636154hg18UCSC Ensembl
Outerchr8:117636146..117636204hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364274
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864889
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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