A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857780



Internal ID5928864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46075626..46084093hg38UCSC Ensembl
Innerchr18:46076126..46083593hg38UCSC Ensembl
Outerchr18:46074626..46085093hg38UCSC Ensembl
chr18:43655592..43664059hg19UCSC Ensembl
Innerchr18:43656092..43663559hg19UCSC Ensembl
Outerchr18:43654592..43665059hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg388468
hg198468
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642423
Supporting Variants
SamplesNA19338
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857780
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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