A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5948158



Internal ID8925561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20889599..20917545hg38UCSC Ensembl
chr14:21357758..21385704hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3827947
hg1927947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673725
Supporting Variants
SamplesNA19455
Known GenesRNASE3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5948158
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer