A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14752277



Internal ID4404445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:58771930..58781765hg38UCSC Ensembl
Innerchr13:58771930..58781765hg38UCSC Ensembl
Outerchr13:58771639..58782018hg38UCSC Ensembl
chr13:59346064..59355899hg19UCSC Ensembl
Innerchr13:59346064..59355899hg19UCSC Ensembl
Outerchr13:59345773..59356152hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg389836
hg199836
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632272
Supporting Variants
SamplesHG03920
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14752277
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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