A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391339



Internal ID14891620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98702987..98703007hg38UCSC Ensembl
Innerchr13:98702954..98703040hg38UCSC Ensembl
Outerchr13:98702934..98703060hg38UCSC Ensembl
chr13:99355241..99355261hg19UCSC Ensembl
Innerchr13:99355208..99355294hg19UCSC Ensembl
Outerchr13:99355188..99355314hg19UCSC Ensembl
chr13:98153242..98153262hg18UCSC Ensembl
Innerchr13:98153295..98153209hg18UCSC Ensembl
Outerchr13:98153189..98153315hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865700
SamplesNA12005
Known GenesSLC15A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391339
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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