A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14869325



Internal ID4871141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96398348..96399387hg38UCSC Ensembl
Innerchr13:96398351..96399384hg38UCSC Ensembl
Outerchr13:96398345..96399390hg38UCSC Ensembl
chr13:97050602..97051641hg19UCSC Ensembl
Innerchr13:97050605..97051638hg19UCSC Ensembl
Outerchr13:97050599..97051644hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg381040
hg191040
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633271
Supporting Variants
SamplesHG04098
Known GenesHS6ST3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14869325
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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