A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3577111



Internal ID7048493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98443876..98443876hg38UCSC Ensembl
chr13:99096130..99096130hg19UCSC Ensembl
chr13:97894131..97894131hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988052
Supporting Variants
SamplesHuRef
Known GenesFARP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3577111
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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