A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302953



Internal ID15149901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:37502541..37515073hg38UCSC Ensembl
Innerchr9:37502641..37514973hg38UCSC Ensembl
Outerchr9:37502441..37515173hg38UCSC Ensembl
chr9:37502538..37515070hg19UCSC Ensembl
Innerchr9:37502638..37514970hg19UCSC Ensembl
Outerchr9:37502438..37515170hg19UCSC Ensembl
chr9:37492538..37505070hg18UCSC Ensembl
Innerchr9:37492638..37504970hg18UCSC Ensembl
Outerchr9:37492438..37505170hg18UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3812533
hg1912533
hg1812533
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7738401, essv7738785
SamplesNA18960, NA18542
Known GenesFBXO10, POLR1E
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302953
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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