A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14869321



Internal ID4871137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96351336..96362482hg38UCSC Ensembl
Innerchr13:96351336..96362482hg38UCSC Ensembl
Outerchr13:96351144..96362756hg38UCSC Ensembl
chr13:97003590..97014736hg19UCSC Ensembl
Innerchr13:97003590..97014736hg19UCSC Ensembl
Outerchr13:97003398..97015010hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3811147
hg1911147
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633269
Supporting Variants
SamplesNA19717
Known GenesHS6ST3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14869321
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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