A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15870179



Internal ID3322799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51670043..51672593hg38UCSC Ensembl
Innerchr18:51670543..51672093hg38UCSC Ensembl
Outerchr18:51669043..51673593hg38UCSC Ensembl
chr18:49196413..49198963hg19UCSC Ensembl
Innerchr18:49196913..49198463hg19UCSC Ensembl
Outerchr18:49195413..49199963hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg382551
hg192551
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642530
Supporting Variants
SamplesHG02970
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15870179
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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