A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308343



Internal ID15155291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49379450..49379451hg38UCSC Ensembl
Innerchr16:49379421..49379480hg38UCSC Ensembl
Outerchr16:49379420..49379481hg38UCSC Ensembl
chr16:49413361..49413362hg19UCSC Ensembl
Innerchr16:49413332..49413391hg19UCSC Ensembl
Outerchr16:49413331..49413392hg19UCSC Ensembl
chr16:47970862..47970863hg18UCSC Ensembl
Innerchr16:47970892..47970833hg18UCSC Ensembl
Outerchr16:47970832..47970893hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838604, essv7837511
SamplesNA19238, NA19240
Known GenesC16orf78
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308343
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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