A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8941373



Internal ID13790782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:97258576..97258603hg38UCSC Ensembl
Innerchr8:97258578..97258601hg38UCSC Ensembl
Outerchr8:97258551..97258628hg38UCSC Ensembl
chr8:98270804..98270831hg19UCSC Ensembl
Innerchr8:98270806..98270829hg19UCSC Ensembl
Outerchr8:98270779..98270856hg19UCSC Ensembl
chr8:98339980..98340007hg18UCSC Ensembl
Innerchr8:98340005..98339982hg18UCSC Ensembl
Outerchr8:98339955..98340032hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38256
hg19256
hg18256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3407339
Supporting Variants
SamplesNA18502
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8941373
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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