A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450061



Internal ID14950323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70155448..70163646hg38UCSC Ensembl
Innerchr16:70156448..70162646hg38UCSC Ensembl
Outerchr16:70154448..70164646hg38UCSC Ensembl
chr16:70189351..70197549hg19UCSC Ensembl
Innerchr16:70190351..70196549hg19UCSC Ensembl
Outerchr16:70188351..70198549hg19UCSC Ensembl
chr16:68746852..68755050hg18UCSC Ensembl
Innerchr16:68747852..68754050hg18UCSC Ensembl
Outerchr16:68745852..68756050hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg388199
hg198199
hg188199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1627e59
Supporting Variantsessv8690417
SamplesNA12892
Known GenesPDPR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450061
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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