A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15844633



Internal ID1454895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:38697238..38733271hg38UCSC Ensembl
Innerchr18:38697238..38733271hg38UCSC Ensembl
Outerchr18:38696738..38733771hg38UCSC Ensembl
chr18:36277202..36313235hg19UCSC Ensembl
Innerchr18:36277202..36313235hg19UCSC Ensembl
Outerchr18:36276702..36313735hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3836034
hg1936034
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642267
Supporting Variants
SamplesHG01345
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15844633
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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