A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14822121



Internal ID4823937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:83267827..83301769hg38UCSC Ensembl
Innerchr13:83267852..83301745hg38UCSC Ensembl
Outerchr13:83267803..83301794hg38UCSC Ensembl
chr13:83841962..83875904hg19UCSC Ensembl
Innerchr13:83841987..83875880hg19UCSC Ensembl
Outerchr13:83841938..83875929hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3833943
hg1933943
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632907
Supporting Variants
SamplesHG00126
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14822121
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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