A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738785



Internal ID13979802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:37502642..37514973hg38UCSC Ensembl
Outerchr9:37502442..37515173hg38UCSC Ensembl
Innerchr9:37502639..37514970hg19UCSC Ensembl
Outerchr9:37502439..37515170hg19UCSC Ensembl
Innerchr9:37492639..37504970hg18UCSC Ensembl
Outerchr9:37492439..37505170hg18UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3812732
hg1912732
hg1812732
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302953
Supporting Variants
SamplesNA18542
Known GenesFBXO10, POLR1E
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738785
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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