A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14869293



Internal ID4871109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96267495..96273665hg38UCSC Ensembl
Innerchr13:96267506..96273654hg38UCSC Ensembl
Outerchr13:96267484..96273676hg38UCSC Ensembl
chr13:96919749..96925919hg19UCSC Ensembl
Innerchr13:96919760..96925908hg19UCSC Ensembl
Outerchr13:96919738..96925930hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg386171
hg196171
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633268
Supporting Variants
SamplesHG02334
Known GenesHS6ST3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14869293
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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