A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690469



Internal ID15058334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87186845..87187643hg38UCSC Ensembl
Innerchr16:87186844..87187644hg38UCSC Ensembl
Outerchr16:87185845..87188643hg38UCSC Ensembl
chr16:87220451..87221249hg19UCSC Ensembl
Innerchr16:87220450..87221250hg19UCSC Ensembl
Outerchr16:87219451..87222249hg19UCSC Ensembl
chr16:85777952..85778750hg18UCSC Ensembl
Innerchr16:85778751..85777951hg18UCSC Ensembl
Outerchr16:85776952..85779750hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381987
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690469
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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