A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690458



Internal ID15099851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:86587245..86588543hg38UCSC Ensembl
Innerchr16:86587543..86588245hg38UCSC Ensembl
Outerchr16:86586245..86589543hg38UCSC Ensembl
chr16:86620851..86622149hg19UCSC Ensembl
Innerchr16:86621149..86621851hg19UCSC Ensembl
Outerchr16:86619851..86623149hg19UCSC Ensembl
chr16:85178352..85179650hg18UCSC Ensembl
Innerchr16:85179352..85178650hg18UCSC Ensembl
Outerchr16:85177352..85180650hg18UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3377029
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690458
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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