A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14886267



Internal ID6408227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:104020468..104031294hg38UCSC Ensembl
Innerchr13:104020484..104031278hg38UCSC Ensembl
Outerchr13:104020452..104031310hg38UCSC Ensembl
chr13:104672818..104683644hg19UCSC Ensembl
Innerchr13:104672834..104683628hg19UCSC Ensembl
Outerchr13:104672802..104683660hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3810827
hg1910827
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633412
Supporting Variants
SamplesNA20356
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14886267
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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