A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14784214



Internal ID5420463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68811694..68819549hg38UCSC Ensembl
Innerchr13:68811694..68819549hg38UCSC Ensembl
Outerchr13:68811677..68819620hg38UCSC Ensembl
chr13:69385826..69393681hg19UCSC Ensembl
Innerchr13:69385826..69393681hg19UCSC Ensembl
Outerchr13:69385809..69393752hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg387856
hg197856
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632603
Supporting Variants
SamplesNA18951
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14784214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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