A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690468



Internal ID15099943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87124045..87125443hg38UCSC Ensembl
Innerchr16:87124443..87125045hg38UCSC Ensembl
Outerchr16:87123045..87126443hg38UCSC Ensembl
chr16:87157651..87159049hg19UCSC Ensembl
Innerchr16:87158049..87158651hg19UCSC Ensembl
Outerchr16:87156651..87160049hg19UCSC Ensembl
chr16:85715152..85716550hg18UCSC Ensembl
Innerchr16:85716152..85715550hg18UCSC Ensembl
Outerchr16:85714152..85717550hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369561
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690468
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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