A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307113



Internal ID15154061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54907607..54907608hg38UCSC Ensembl
Innerchr6:54907575..54907640hg38UCSC Ensembl
Outerchr6:54907574..54907641hg38UCSC Ensembl
chr6:54772405..54772406hg19UCSC Ensembl
Innerchr6:54772373..54772438hg19UCSC Ensembl
Outerchr6:54772372..54772439hg19UCSC Ensembl
chr6:54880364..54880365hg18UCSC Ensembl
Innerchr6:54880397..54880332hg18UCSC Ensembl
Outerchr6:54880331..54880398hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7762659, essv7757862, essv7749250, essv7757292, essv7751220, essv7751592, essv7762529, essv7740744
SamplesNA18592, NA18980, NA18579, NA18856, NA18943, NA12763, NA18609, NA18965
Known GenesFAM83B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307113
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer