A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689828



Internal ID14708563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11171594..11172392hg38UCSC Ensembl
Innerchr16:11171593..11172393hg38UCSC Ensembl
Outerchr16:11170594..11173392hg38UCSC Ensembl
chr16:11265451..11266249hg19UCSC Ensembl
Innerchr16:11265450..11266250hg19UCSC Ensembl
Outerchr16:11264451..11267249hg19UCSC Ensembl
chr16:11172952..11173750hg18UCSC Ensembl
Innerchr16:11173751..11172951hg18UCSC Ensembl
Outerchr16:11171952..11174750hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3375909
Supporting Variants
SamplesNA19239
Known GenesCLEC16A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689828
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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