A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309233



Internal ID14809497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10992544..10992545hg38UCSC Ensembl
Innerchr16:10992510..10992579hg38UCSC Ensembl
Outerchr16:10992509..10992580hg38UCSC Ensembl
chr16:11086401..11086402hg19UCSC Ensembl
Innerchr16:11086367..11086436hg19UCSC Ensembl
Outerchr16:11086366..11086437hg19UCSC Ensembl
chr16:10993902..10993903hg18UCSC Ensembl
Innerchr16:10993937..10993868hg18UCSC Ensembl
Outerchr16:10993867..10993938hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836870
SamplesNA19239
Known GenesCLEC16A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309233
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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