A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15792886



Internal ID5526630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5854544..5860407hg38UCSC Ensembl
Innerchr18:5854558..5860393hg38UCSC Ensembl
Outerchr18:5854530..5860421hg38UCSC Ensembl
chr18:5854543..5860406hg19UCSC Ensembl
Innerchr18:5854557..5860392hg19UCSC Ensembl
Outerchr18:5854529..5860420hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg385864
hg195864
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641659
Supporting Variants
SamplesNA18995
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15792886
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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