A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307454



Internal ID15154402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69396189..69396190hg38UCSC Ensembl
Innerchr6:69396160..69396219hg38UCSC Ensembl
Outerchr6:69396159..69396220hg38UCSC Ensembl
chr6:70106081..70106082hg19UCSC Ensembl
Innerchr6:70106052..70106111hg19UCSC Ensembl
Outerchr6:70106051..70106112hg19UCSC Ensembl
chr6:70162802..70162803hg18UCSC Ensembl
Innerchr6:70162832..70162773hg18UCSC Ensembl
Outerchr6:70162772..70162833hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7745459, essv7746622, essv7741148, essv7760331, essv7744258, essv7747826
SamplesNA18510, NA19225, NA18858, NA19147, NA18517, NA19116
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307454
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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