A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15838847



Internal ID5840663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:33873158..33876520hg38UCSC Ensembl
Innerchr18:33873166..33876512hg38UCSC Ensembl
Outerchr18:33873150..33876528hg38UCSC Ensembl
chr18:31453122..31456484hg19UCSC Ensembl
Innerchr18:31453130..31456476hg19UCSC Ensembl
Outerchr18:31453114..31456492hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg383363
hg193363
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642176
Supporting Variants
SamplesHG02184
Known GenesNOL4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15838847
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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