A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14814712



Internal ID4840945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:80198962..80215247hg38UCSC Ensembl
Innerchr13:80198962..80215247hg38UCSC Ensembl
Outerchr13:80198462..80215747hg38UCSC Ensembl
chr13:80773097..80789382hg19UCSC Ensembl
Innerchr13:80773097..80789382hg19UCSC Ensembl
Outerchr13:80772597..80789882hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3816286
hg1916286
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632831
Supporting Variants
SamplesNA12155
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14814712
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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