A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052478



Internal ID5054294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70105888..70108163hg38UCSC Ensembl
Innerchr14:70105888..70108163hg38UCSC Ensembl
Outerchr14:70105655..70108400hg38UCSC Ensembl
chr14:70572605..70574880hg19UCSC Ensembl
Innerchr14:70572605..70574880hg19UCSC Ensembl
Outerchr14:70572372..70575117hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382276
hg192276
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634852
Supporting Variants
SamplesHG03240
Known GenesSLC8A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052478
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