A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11438355



Internal ID4761333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54203718..54205998hg38UCSC Ensembl
Innerchr4:54203718..54205998hg38UCSC Ensembl
Outerchr4:54203514..54206142hg38UCSC Ensembl
chr4:55069885..55072165hg19UCSC Ensembl
Innerchr4:55069885..55072165hg19UCSC Ensembl
Outerchr4:55069681..55072309hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382281
hg192281
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600537
Supporting Variants
SamplesNA11830
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11438355
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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