A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555451



Internal ID18409841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:57678689..57678983hg38UCSC Ensembl
Outerchr18:57678616..57679067hg38UCSC Ensembl
Innerchr18:55345921..55346215hg19UCSC Ensembl
Outerchr18:55345848..55346299hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754198
Samples
Known GenesATP8B1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555451
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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