A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14756378



Internal ID5162288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59867815..59900040hg38UCSC Ensembl
chr13:60441949..60474174hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3832226
hg1932226
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632294
Supporting Variants
SamplesNA18595
Known GenesDIAPH3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14756378
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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