A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3437996



Internal ID14938263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69748406..69748416hg38UCSC Ensembl
Innerchr9:69748386..69748436hg38UCSC Ensembl
Outerchr9:69748376..69748446hg38UCSC Ensembl
chr9:72363322..72363332hg19UCSC Ensembl
Innerchr9:72363302..72363352hg19UCSC Ensembl
Outerchr9:72363292..72363362hg19UCSC Ensembl
chr9:71553142..71553152hg18UCSC Ensembl
Innerchr9:71553172..71553122hg18UCSC Ensembl
Outerchr9:71553112..71553182hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864927
SamplesNA12005
Known GenesPTAR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3437996
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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