A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14869274



Internal ID4871090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96148491..96149298hg38UCSC Ensembl
Innerchr13:96148519..96149270hg38UCSC Ensembl
Outerchr13:96148463..96149326hg38UCSC Ensembl
chr13:96800745..96801552hg19UCSC Ensembl
Innerchr13:96800773..96801524hg19UCSC Ensembl
Outerchr13:96800717..96801580hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633264
Supporting Variants
SamplesHG01860
Known GenesHS6ST3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14869274
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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