A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11734090



Internal ID4280900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184743903..184752051hg38UCSC Ensembl
Innerchr4:184743903..184752051hg38UCSC Ensembl
Outerchr4:184743753..184752290hg38UCSC Ensembl
chr4:185665057..185673205hg19UCSC Ensembl
Innerchr4:185665057..185673205hg19UCSC Ensembl
Outerchr4:185664907..185673444hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg388149
hg198149
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603468
Supporting Variants
SamplesHG03846
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11734090
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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