A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382243



Internal ID15167345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98443879..98443879hg38UCSC Ensembl
Innerchr13:98443878..98443880hg38UCSC Ensembl
Outerchr13:98443829..98443929hg38UCSC Ensembl
chr13:99096133..99096133hg19UCSC Ensembl
Innerchr13:99096132..99096134hg19UCSC Ensembl
Outerchr13:99096083..99096183hg19UCSC Ensembl
chr13:97894134..97894134hg18UCSC Ensembl
Innerchr13:97894135..97894133hg18UCSC Ensembl
Outerchr13:97894084..97894184hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701301
SamplesNA12878
Known GenesFARP1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382243
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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