A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710995



Internal ID3393828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45677952..45679460hg38UCSC Ensembl
Innerchr13:45677958..45679455hg38UCSC Ensembl
Outerchr13:45677947..45679466hg38UCSC Ensembl
chr13:46252087..46253595hg19UCSC Ensembl
Innerchr13:46252093..46253590hg19UCSC Ensembl
Outerchr13:46252082..46253601hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg381509
hg191509
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631961
Supporting Variants
SamplesHG03045
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710995
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