A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304082



Internal ID15151030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7864819..7864820hg38UCSC Ensembl
Innerchr5:7864791..7864848hg38UCSC Ensembl
Outerchr5:7864790..7864849hg38UCSC Ensembl
chr5:7864932..7864933hg19UCSC Ensembl
Innerchr5:7864904..7864961hg19UCSC Ensembl
Outerchr5:7864903..7864962hg19UCSC Ensembl
chr5:7917932..7917933hg18UCSC Ensembl
Innerchr5:7917961..7917904hg18UCSC Ensembl
Outerchr5:7917903..7917962hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38290
hg19290
hg18290
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749155, essv7744244, essv7753327, essv7761332, essv7749496, essv7761748, essv7742121, essv7750567, essv7749683, essv7741376
SamplesNA18510, NA18519, NA19238, NA18516, NA18871, NA18499, NA18856, NA19099, NA19257, NA19093
Known GenesFASTKD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304082
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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