A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15076954



Internal ID1395610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80356948..80360062hg38UCSC Ensembl
Innerchr14:80356948..80360062hg38UCSC Ensembl
Outerchr14:80356710..80360316hg38UCSC Ensembl
chr14:80823291..80826405hg19UCSC Ensembl
Innerchr14:80823291..80826405hg19UCSC Ensembl
Outerchr14:80823053..80826659hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg383115
hg193115
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635066
Supporting Variants
SamplesHG01260
Known GenesDIO2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15076954
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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