A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11009404



Internal ID5590150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49432062..49436089hg38UCSC Ensembl
Innerchr3:49432112..49436039hg38UCSC Ensembl
Outerchr3:49431950..49436201hg38UCSC Ensembl
chr3:49469495..49473522hg19UCSC Ensembl
Innerchr3:49469545..49473472hg19UCSC Ensembl
Outerchr3:49469383..49473634hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384028
hg194028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596126
Supporting Variants
SamplesNA19027
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11009404
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer