A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11010084



Internal ID5679518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49948595..49955755hg38UCSC Ensembl
Innerchr3:49949095..49955255hg38UCSC Ensembl
Outerchr3:49947595..49956755hg38UCSC Ensembl
chr3:49986028..49993188hg19UCSC Ensembl
Innerchr3:49986528..49992688hg19UCSC Ensembl
Outerchr3:49985028..49994188hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg387161
hg197161
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596135
Supporting Variants
SamplesNA19080
Known GenesRBM6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11010084
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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