A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11727308



Internal ID2701887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:179579897..179627655hg38UCSC Ensembl
Innerchr4:179579907..179627645hg38UCSC Ensembl
Outerchr4:179579887..179627665hg38UCSC Ensembl
chr4:180501050..180548808hg19UCSC Ensembl
Innerchr4:180501060..180548798hg19UCSC Ensembl
Outerchr4:180501040..180548818hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3847759
hg1947759
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603355
Supporting Variants
SamplesHG02386
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11727308
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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