A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11784551



Internal ID4632301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1716989..1719856hg38UCSC Ensembl
Innerchr5:1717039..1719806hg38UCSC Ensembl
Outerchr5:1716939..1719906hg38UCSC Ensembl
chr5:1717104..1719971hg19UCSC Ensembl
Innerchr5:1717154..1719921hg19UCSC Ensembl
Outerchr5:1717054..1720021hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382868
hg192868
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603821
Supporting Variants
SamplesHG04162
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11784551
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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