A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429009



Internal ID15275965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54907604..54907627hg38UCSC Ensembl
Innerchr6:54907609..54907622hg38UCSC Ensembl
Outerchr6:54907586..54907645hg38UCSC Ensembl
chr6:54772402..54772425hg19UCSC Ensembl
Innerchr6:54772407..54772420hg19UCSC Ensembl
Outerchr6:54772384..54772443hg19UCSC Ensembl
chr6:54880361..54880384hg18UCSC Ensembl
Innerchr6:54880379..54880366hg18UCSC Ensembl
Outerchr6:54880343..54880402hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8929747, essv8929743, essv8929748, essv8929742, essv8929745, essv8929744, essv8929749, essv8929741
SamplesNA18592, NA18980, NA18579, NA18856, NA18943, NA12763, NA18609, NA18965
Known GenesFAM83B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429009
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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