A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14784251



Internal ID5831552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68816450..68817535hg38UCSC Ensembl
Innerchr13:68816456..68817529hg38UCSC Ensembl
Outerchr13:68816444..68817541hg38UCSC Ensembl
chr13:69390582..69391667hg19UCSC Ensembl
Innerchr13:69390588..69391661hg19UCSC Ensembl
Outerchr13:69390576..69391673hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg381086
hg191086
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632604
Supporting Variants
SamplesNA19206
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14784251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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