A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11790466



Internal ID1986625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:3099969..3113321hg38UCSC Ensembl
Innerchr5:3100469..3112821hg38UCSC Ensembl
Outerchr5:3098969..3114321hg38UCSC Ensembl
chr5:3100083..3113435hg19UCSC Ensembl
Innerchr5:3100583..3112935hg19UCSC Ensembl
Outerchr5:3099083..3114435hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3813353
hg1913353
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603846
Supporting Variants
SamplesHG01845
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11790466
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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