A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306707



Internal ID15153655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49379437..49379438hg38UCSC Ensembl
Innerchr16:49379404..49379471hg38UCSC Ensembl
Outerchr16:49379403..49379472hg38UCSC Ensembl
chr16:49413348..49413349hg19UCSC Ensembl
Innerchr16:49413315..49413382hg19UCSC Ensembl
Outerchr16:49413314..49413383hg19UCSC Ensembl
chr16:47970849..47970850hg18UCSC Ensembl
Innerchr16:47970883..47970816hg18UCSC Ensembl
Outerchr16:47970815..47970884hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38206
hg19206
hg18206
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760250, essv7762277, essv7741007, essv7749558, essv7744211, essv7750351, essv7742017, essv7756202, essv7745328, essv7761517, essv7761918, essv7748563, essv7760426, essv7753581
SamplesNA18870, NA18510, NA18550, NA18489, NA18949, NA19239, NA18537, NA18499, NA19099, NA19147, NA18517, NA18501, NA19093, NA19116
Known GenesC16orf78
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306707
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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