A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842022



Internal ID3451837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35446899..35449714hg38UCSC Ensembl
Innerchr18:35446923..35449690hg38UCSC Ensembl
Outerchr18:35446875..35449738hg38UCSC Ensembl
chr18:33026863..33029678hg19UCSC Ensembl
Innerchr18:33026887..33029654hg19UCSC Ensembl
Outerchr18:33026839..33029702hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg382816
hg192816
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642202
Supporting Variants
SamplesHG03078
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842022
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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