A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635066



Internal ID7021866
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15076957, essv15076956, essv15076953, essv15076955, essv15076954
SamplesNA11995, NA12762, HG01392, HG01260, HG01082
Known GenesDIO2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635066
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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