A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14869322



Internal ID4871138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96388850..96390832hg38UCSC Ensembl
Innerchr13:96388858..96390825hg38UCSC Ensembl
Outerchr13:96388843..96390840hg38UCSC Ensembl
chr13:97041104..97043086hg19UCSC Ensembl
Innerchr13:97041112..97043079hg19UCSC Ensembl
Outerchr13:97041097..97043094hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg381983
hg191983
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633270
Supporting Variants
SamplesHG03887
Known GenesHS6ST3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14869322
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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