A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15856380



Internal ID3207188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43421441..43431814hg38UCSC Ensembl
Innerchr18:43421441..43431814hg38UCSC Ensembl
Outerchr18:43421200..43431903hg38UCSC Ensembl
chr18:41001406..41011779hg19UCSC Ensembl
Innerchr18:41001406..41011779hg19UCSC Ensembl
Outerchr18:41001165..41011868hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3810374
hg1910374
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642375
Supporting Variants
SamplesHG02814
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15856380
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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