A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381987



Internal ID15228959
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 StatusM
Merged Variants
Supporting Variantsessv8690469
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381987
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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