A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14909061



Internal ID6319604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113505580..113522478hg38UCSC Ensembl
Innerchr13:113505580..113522478hg38UCSC Ensembl
Outerchr13:113505080..113522978hg38UCSC Ensembl
chr13:114159895..114176793hg19UCSC Ensembl
Innerchr13:114159895..114176793hg19UCSC Ensembl
Outerchr13:114159395..114177293hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3816899
hg1916899
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633612
Supporting Variants
SamplesNA19917
Known GenesTMCO3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14909061
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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