A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14822132



Internal ID413885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:83372014..83380428hg38UCSC Ensembl
Innerchr13:83372014..83380428hg38UCSC Ensembl
Outerchr13:83371514..83380928hg38UCSC Ensembl
chr13:83946149..83954563hg19UCSC Ensembl
Innerchr13:83946149..83954563hg19UCSC Ensembl
Outerchr13:83945649..83955063hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg388415
hg198415
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632911
Supporting Variants
SamplesHG00123
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14822132
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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