A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14680399



Internal ID3065913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29060827..29062117hg38UCSC Ensembl
Innerchr13:29060840..29062104hg38UCSC Ensembl
Outerchr13:29060814..29062130hg38UCSC Ensembl
chr13:29634964..29636254hg19UCSC Ensembl
Innerchr13:29634977..29636241hg19UCSC Ensembl
Outerchr13:29634951..29636267hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381291
hg191291
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631648
Supporting Variants
SamplesHG02691
Known GenesMTUS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14680399
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