A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14888784



Internal ID5353241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:105100858..105109710hg38UCSC Ensembl
Innerchr13:105100879..105109690hg38UCSC Ensembl
Outerchr13:105100838..105109731hg38UCSC Ensembl
chr13:105753209..105762061hg19UCSC Ensembl
Innerchr13:105753230..105762041hg19UCSC Ensembl
Outerchr13:105753189..105762082hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg388853
hg198853
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633437
Supporting Variants
SamplesNA18881
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14888784
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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