A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424558



Internal ID15271515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117288919..117288966hg38UCSC Ensembl
Innerchr8:117288936..117288949hg38UCSC Ensembl
Outerchr8:117288889..117288996hg38UCSC Ensembl
chr8:118301158..118301205hg19UCSC Ensembl
Innerchr8:118301175..118301188hg19UCSC Ensembl
Outerchr8:118301128..118301235hg19UCSC Ensembl
chr8:118370339..118370386hg18UCSC Ensembl
Innerchr8:118370369..118370356hg18UCSC Ensembl
Outerchr8:118370309..118370416hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8942123, essv8942127, essv8942124, essv8942125
SamplesNA18916, NA18499, NA18501, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424558
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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