A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308196



Internal ID15155144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76836357..76836358hg38UCSC Ensembl
Innerchr9:76836341..76836374hg38UCSC Ensembl
Outerchr9:76836340..76836375hg38UCSC Ensembl
chr9:79451273..79451274hg19UCSC Ensembl
Innerchr9:79451257..79451290hg19UCSC Ensembl
Outerchr9:79451256..79451291hg19UCSC Ensembl
chr9:78641093..78641094hg18UCSC Ensembl
Innerchr9:78641110..78641077hg18UCSC Ensembl
Outerchr9:78641076..78641111hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38200
hg19200
hg18200
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840053, essv7841530, essv7840687, essv7843106
SamplesNA12891, NA19239, NA12878, NA12892
Known GenesPRUNE2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308196
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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