A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14869341



Internal ID4871157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96838169..96838762hg38UCSC Ensembl
Innerchr13:96838169..96838762hg38UCSC Ensembl
Outerchr13:96837890..96839019hg38UCSC Ensembl
chr13:97490423..97491016hg19UCSC Ensembl
Innerchr13:97490423..97491016hg19UCSC Ensembl
Outerchr13:97490144..97491273hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633281
Supporting Variants
SamplesHG00188
Known GenesHS6ST3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14869341
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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