A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14780802



Internal ID2094315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67473466..67520702hg38UCSC Ensembl
chr13:68047598..68094834hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3847237
hg1947237
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632552
Supporting Variants
SamplesHG01896
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14780802
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