A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865700



Internal ID12971333
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 StatusS
Merged Variantsesv3391339
Supporting Variants
SamplesNA12005
Known GenesSLC15A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865700
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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