A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9754165



Internal ID18728411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:54342529..54344593hg38UCSC Ensembl
Outerchr18:54342375..54344637hg38UCSC Ensembl
Innerchr18:51868899..51870963hg19UCSC Ensembl
Outerchr18:51868745..51871007hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg382263
hg192263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3555418
Supporting Variants
Samples
Known GenesSTARD6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9754165
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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