A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15961896



Internal ID5963712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80172142..80176407hg38UCSC Ensembl
Innerchr18:80172177..80176373hg38UCSC Ensembl
Outerchr18:80172108..80176442hg38UCSC Ensembl
chr18:77930025..77934290hg19UCSC Ensembl
Innerchr18:77930060..77934256hg19UCSC Ensembl
Outerchr18:77929991..77934325hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg384266
hg194266
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643337
Supporting Variants
SamplesHG01571
Known GenesPARD6G, PARD6G-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15961896
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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