A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550245



Internal ID18751321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29380638..29380932hg38UCSC Ensembl
Outerchr13:29380591..29380983hg38UCSC Ensembl
Innerchr13:29954775..29955069hg19UCSC Ensembl
Outerchr13:29954728..29955120hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748992
Samples
Known GenesMTUS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550245
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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