A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14909058



Internal ID6866429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113502377..113517561hg38UCSC Ensembl
Innerchr13:113502877..113517061hg38UCSC Ensembl
Outerchr13:113501377..113518561hg38UCSC Ensembl
chr13:114156692..114171876hg19UCSC Ensembl
Innerchr13:114157192..114171376hg19UCSC Ensembl
Outerchr13:114155692..114172876hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3815185
hg1915185
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633611
Supporting Variants
SamplesNA21094
Known GenesTMCO3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14909058
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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