A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642524



Internal ID7029294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51105928..51112452hg38UCSC Ensembl
Innerchr18:51105957..51112423hg38UCSC Ensembl
Outerchr18:51105899..51112481hg38UCSC Ensembl
chr18:48632298..48638822hg19UCSC Ensembl
Innerchr18:48632327..48638793hg19UCSC Ensembl
Outerchr18:48632269..48638851hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg386525
hg196525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15869679
SamplesHG00362
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642524
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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