A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14748007



Internal ID1062565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:57479788..57515280hg38UCSC Ensembl
Innerchr13:57479788..57515280hg38UCSC Ensembl
Outerchr13:57479288..57515780hg38UCSC Ensembl
chr13:58053922..58089414hg19UCSC Ensembl
Innerchr13:58053922..58089414hg19UCSC Ensembl
Outerchr13:58053422..58089914hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3835493
hg1935493
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632242
Supporting Variants
SamplesHG00689
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14748007
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