A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11443859



Internal ID1996636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:58010129..58026366hg38UCSC Ensembl
Innerchr4:58010629..58025866hg38UCSC Ensembl
Outerchr4:58009129..58027366hg38UCSC Ensembl
chr4:58876295..58892532hg19UCSC Ensembl
Innerchr4:58876795..58892032hg19UCSC Ensembl
Outerchr4:58875295..58893532hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3816238
hg1916238
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600616
Supporting Variants
SamplesHG01849
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11443859
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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