A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8815690



Internal ID13661745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98443862..98443862hg38UCSC Ensembl
Innerchr13:98443861..98443863hg38UCSC Ensembl
Outerchr13:98443802..98443912hg38UCSC Ensembl
chr13:99096116..99096116hg19UCSC Ensembl
Innerchr13:99096115..99096117hg19UCSC Ensembl
Outerchr13:99096056..99096166hg19UCSC Ensembl
chr13:97894117..97894117hg18UCSC Ensembl
Innerchr13:97894118..97894116hg18UCSC Ensembl
Outerchr13:97894057..97894167hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3414683
Supporting Variants
SamplesNA12878
Known GenesFARP1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8815690
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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