A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15048589



Internal ID687671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68391228..68395137hg38UCSC Ensembl
Innerchr14:68391228..68395137hg38UCSC Ensembl
Outerchr14:68390969..68395395hg38UCSC Ensembl
chr14:68857945..68861854hg19UCSC Ensembl
Innerchr14:68857945..68861854hg19UCSC Ensembl
Outerchr14:68857686..68862112hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg383910
hg193910
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634823
Supporting Variants
SamplesHG00323
Known GenesRAD51B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15048589
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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