A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400257



Internal ID15247220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53679324..53679324hg38UCSC Ensembl
Innerchr8:53679323..53679325hg38UCSC Ensembl
Outerchr8:53679274..53679374hg38UCSC Ensembl
chr8:54591884..54591884hg19UCSC Ensembl
Innerchr8:54591883..54591885hg19UCSC Ensembl
Outerchr8:54591834..54591934hg19UCSC Ensembl
chr8:54754437..54754437hg18UCSC Ensembl
Innerchr8:54754438..54754436hg18UCSC Ensembl
Outerchr8:54754387..54754487hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg381278
hg191278
hg181278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741338
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400257
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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