A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690423



Internal ID15025681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72059952..72078350hg38UCSC Ensembl
Innerchr16:72060952..72077350hg38UCSC Ensembl
Outerchr16:72058952..72079350hg38UCSC Ensembl
chr16:72093851..72112249hg19UCSC Ensembl
Innerchr16:72094851..72111249hg19UCSC Ensembl
Outerchr16:72092851..72113249hg19UCSC Ensembl
chr16:70651352..70669750hg18UCSC Ensembl
Innerchr16:70652352..70668750hg18UCSC Ensembl
Outerchr16:70650352..70670750hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3818399
hg1918399
hg1818399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3386036
Supporting Variants
SamplesNA19238
Known GenesHP, HPR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690423
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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