A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387718



Internal ID15234687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123346252..123349350hg38UCSC Ensembl
Innerchr9:123347252..123348350hg38UCSC Ensembl
Outerchr9:123345252..123350350hg38UCSC Ensembl
chr9:126108531..126111629hg19UCSC Ensembl
Innerchr9:126109531..126110629hg19UCSC Ensembl
Outerchr9:126107531..126112629hg19UCSC Ensembl
chr9:125148352..125151450hg18UCSC Ensembl
Innerchr9:125149352..125150450hg18UCSC Ensembl
Outerchr9:125147352..125152450hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696517
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387718
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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