A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14789412



Internal ID2748723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70808490..70811016hg38UCSC Ensembl
Innerchr13:70808540..70810966hg38UCSC Ensembl
Outerchr13:70808440..70811066hg38UCSC Ensembl
chr13:71382622..71385148hg19UCSC Ensembl
Innerchr13:71382672..71385098hg19UCSC Ensembl
Outerchr13:71382572..71385198hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg382527
hg192527
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632661
Supporting Variants
SamplesHG02419
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14789412
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