A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15904073



Internal ID5184399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63059726..63072355hg38UCSC Ensembl
Innerchr18:63059732..63072350hg38UCSC Ensembl
Outerchr18:63059721..63072361hg38UCSC Ensembl
chr18:60726959..60739588hg19UCSC Ensembl
Innerchr18:60726965..60739583hg19UCSC Ensembl
Outerchr18:60726954..60739594hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3812630
hg1912630
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642762
Supporting Variants
SamplesNA18608
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15904073
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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