A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643337



Internal ID6683417
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15961899, essv15961894, essv15961896, essv15961897, essv15961895, essv15961900, essv15961898
SamplesHG01859, HG01845, HG00452, HG01571, NA06984, HG02075, HG00566
Known GenesPARD6G, PARD6G-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643337
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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