A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15779350



Internal ID5004152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3479012..3482716hg38UCSC Ensembl
Innerchr18:3479012..3482716hg38UCSC Ensembl
Outerchr18:3478710..3482916hg38UCSC Ensembl
chr18:3479010..3482714hg19UCSC Ensembl
Innerchr18:3479010..3482714hg19UCSC Ensembl
Outerchr18:3478708..3482914hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383705
hg193705
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641598
Supporting Variants
SamplesNA18504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15779350
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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