A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308008



Internal ID15154956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:60793270..60793271hg38UCSC Ensembl
Innerchr13:60793242..60793299hg38UCSC Ensembl
Outerchr13:60793241..60793300hg38UCSC Ensembl
chr13:61367404..61367405hg19UCSC Ensembl
Innerchr13:61367376..61367433hg19UCSC Ensembl
Outerchr13:61367375..61367434hg19UCSC Ensembl
chr13:60265405..60265406hg18UCSC Ensembl
Innerchr13:60265434..60265377hg18UCSC Ensembl
Outerchr13:60265376..60265435hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838848, essv7838035, essv7837836
SamplesNA19238, NA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308008
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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