A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375788



Internal ID15222763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:18400147..18400147hg38UCSC Ensembl
Innerchr9:18400146..18400148hg38UCSC Ensembl
Outerchr9:18400087..18400197hg38UCSC Ensembl
chr9:18400145..18400145hg19UCSC Ensembl
Innerchr9:18400144..18400146hg19UCSC Ensembl
Outerchr9:18400085..18400195hg19UCSC Ensembl
chr9:18390145..18390145hg18UCSC Ensembl
Innerchr9:18390146..18390144hg18UCSC Ensembl
Outerchr9:18390085..18390195hg18UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8843665
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375788
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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