A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555034



Internal ID18756110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9385453..9385715hg38UCSC Ensembl
Outerchr18:9385379..9385763hg38UCSC Ensembl
Innerchr18:9385451..9385713hg19UCSC Ensembl
Outerchr18:9385377..9385761hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753781
Samples
Known GenesTWSG1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555034
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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