A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14789450



Internal ID6794094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:71212770..71218189hg38UCSC Ensembl
chr13:71786902..71792321hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg385420
hg195420
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632667
Supporting Variants
SamplesNA20887
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14789450
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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