A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14870642



Internal ID863488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98246057..98252031hg38UCSC Ensembl
Innerchr13:98246057..98252031hg38UCSC Ensembl
Outerchr13:98245557..98252531hg38UCSC Ensembl
chr13:98898311..98904285hg19UCSC Ensembl
Innerchr13:98898311..98904285hg19UCSC Ensembl
Outerchr13:98897811..98904785hg19UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg385975
hg195975
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633306
Supporting Variants
SamplesHG00452
Known GenesFARP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14870642
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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