A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365118



Internal ID15212095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125860684..125860703hg38UCSC Ensembl
Innerchr8:125860680..125860707hg38UCSC Ensembl
Outerchr8:125860661..125860726hg38UCSC Ensembl
chr8:126872928..126872947hg19UCSC Ensembl
Innerchr8:126872924..126872951hg19UCSC Ensembl
Outerchr8:126872905..126872970hg19UCSC Ensembl
chr8:126942110..126942129hg18UCSC Ensembl
Innerchr8:126942133..126942106hg18UCSC Ensembl
Outerchr8:126942087..126942152hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9641303
SamplesNA19143
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365118
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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