A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15869534



Internal ID3464397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50298280..50302721hg38UCSC Ensembl
Innerchr18:50298780..50302221hg38UCSC Ensembl
Outerchr18:50297280..50303721hg38UCSC Ensembl
chr18:47824650..47829091hg19UCSC Ensembl
Innerchr18:47825150..47828591hg19UCSC Ensembl
Outerchr18:47823650..47830091hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384442
hg194442
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642507
Supporting Variants
SamplesHG03084
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15869534
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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