A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710914



Internal ID4466533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45413790..45431769hg38UCSC Ensembl
Innerchr13:45413790..45431769hg38UCSC Ensembl
Outerchr13:45413671..45431815hg38UCSC Ensembl
chr13:45987925..46005904hg19UCSC Ensembl
Innerchr13:45987925..46005904hg19UCSC Ensembl
Outerchr13:45987806..46005950hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3817980
hg1917980
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631957
Supporting Variants
SamplesHG03969
Known GenesSLC25A30
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710914
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