A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14789454



Internal ID6793906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:71212811..71218058hg38UCSC Ensembl
Innerchr13:71212829..71218040hg38UCSC Ensembl
Outerchr13:71212793..71218076hg38UCSC Ensembl
chr13:71786943..71792190hg19UCSC Ensembl
Innerchr13:71786961..71792172hg19UCSC Ensembl
Outerchr13:71786925..71792208hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg385248
hg195248
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632669
Supporting Variants
SamplesNA20887
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14789454
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