A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15844379



Internal ID4531567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37780809..37790147hg38UCSC Ensembl
Innerchr18:37780823..37790133hg38UCSC Ensembl
Outerchr18:37780795..37790161hg38UCSC Ensembl
chr18:35360773..35370111hg19UCSC Ensembl
Innerchr18:35360787..35370097hg19UCSC Ensembl
Outerchr18:35360759..35370125hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg389339
hg199339
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642252
Supporting Variants
SamplesHG04025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15844379
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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