A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14814724



Internal ID1013020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:80461616..80478733hg38UCSC Ensembl
Innerchr13:80461766..80478583hg38UCSC Ensembl
Outerchr13:80461466..80478883hg38UCSC Ensembl
chr13:81035751..81052868hg19UCSC Ensembl
Innerchr13:81035901..81052718hg19UCSC Ensembl
Outerchr13:81035601..81053018hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3817118
hg1917118
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632839
Supporting Variants
SamplesHG00632
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14814724
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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