A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544061



Internal ID18745137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:115476017..115476309hg38UCSC Ensembl
Outerchr8:115475949..115476365hg38UCSC Ensembl
Innerchr8:116488244..116488536hg19UCSC Ensembl
Outerchr8:116488176..116488592hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742808
Samples
Known GenesTRPS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544061
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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