A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309153



Internal ID15156102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43837649..43837650hg38UCSC Ensembl
Innerchr13:43837623..43837676hg38UCSC Ensembl
Outerchr13:43837622..43837677hg38UCSC Ensembl
chr13:44411785..44411786hg19UCSC Ensembl
Innerchr13:44411759..44411812hg19UCSC Ensembl
Outerchr13:44411758..44411813hg19UCSC Ensembl
chr13:43309785..43309786hg18UCSC Ensembl
Innerchr13:43309812..43309759hg18UCSC Ensembl
Outerchr13:43309758..43309813hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837555, essv7838862
SamplesNA19238, NA19240
Known GenesCCDC122
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309153
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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