A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394344



Internal ID15241309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62350755..62353453hg38UCSC Ensembl
Innerchr9:62351755..62352453hg38UCSC Ensembl
Outerchr9:62349755..62354453hg38UCSC Ensembl
chr9:46662056..46664754hg19UCSC Ensembl
Innerchr9:46663056..46663754hg19UCSC Ensembl
Outerchr9:46661056..46665754hg19UCSC Ensembl
chr9:46502052..46504750hg18UCSC Ensembl
Innerchr9:46503052..46503750hg18UCSC Ensembl
Outerchr9:46501052..46505750hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4370e59
Supporting Variantsessv8696961
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394344
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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