A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11444892



Internal ID799783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:58301045..58316047hg38UCSC Ensembl
Innerchr4:58301045..58316047hg38UCSC Ensembl
Outerchr4:58300748..58316295hg38UCSC Ensembl
chr4:59167211..59182213hg19UCSC Ensembl
Innerchr4:59167211..59182213hg19UCSC Ensembl
Outerchr4:59166914..59182461hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3815003
hg1915003
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600624
Supporting Variants
SamplesHG00379
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11444892
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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