A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5589012



Internal ID8868955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:68391314..68395058hg38UCSC Ensembl
Outerchr14:68391157..68395211hg38UCSC Ensembl
Innerchr14:68858031..68861775hg19UCSC Ensembl
Outerchr14:68857874..68861928hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg384055
hg194055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673152
Supporting Variants
SamplesHG00323
Known GenesRAD51B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5589012
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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