A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555792



Internal ID18410182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79739852..79740126hg38UCSC Ensembl
Outerchr18:79739777..79740194hg38UCSC Ensembl
Innerchr18:77499852..77500126hg19UCSC Ensembl
Outerchr18:77499777..77500194hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv212e215
Supporting Variantsessv9754539
Samples
Known GenesCTDP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555792
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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