A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334889



Internal ID15181879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98443397..98443892hg38UCSC Ensembl
Innerchr13:98443457..98443823hg38UCSC Ensembl
Outerchr13:98443307..98443933hg38UCSC Ensembl
chr13:99095651..99096146hg19UCSC Ensembl
Innerchr13:99095711..99096077hg19UCSC Ensembl
Outerchr13:99095561..99096187hg19UCSC Ensembl
chr13:97893652..97894147hg18UCSC Ensembl
Innerchr13:97893712..97894078hg18UCSC Ensembl
Outerchr13:97893562..97894188hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg38496
hg19496
hg18496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8698696
SamplesNA12878
Known GenesFARP1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334889
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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