A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308999



Internal ID14809262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:32463889..32463890hg38UCSC Ensembl
Innerchr9:32463864..32463915hg38UCSC Ensembl
Outerchr9:32463863..32463916hg38UCSC Ensembl
chr9:32463887..32463888hg19UCSC Ensembl
Innerchr9:32463862..32463913hg19UCSC Ensembl
Outerchr9:32463861..32463914hg19UCSC Ensembl
chr9:32453887..32453888hg18UCSC Ensembl
Innerchr9:32453913..32453862hg18UCSC Ensembl
Outerchr9:32453861..32453914hg18UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38179
hg19179
hg18179
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836809, essv7838342, essv7838976, essv7837339, essv7837944, essv7838158
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesDDX58
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308999
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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