A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545255



Internal ID18399645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:105702193..105703051hg38UCSC Ensembl
Outerchr9:105702178..105703070hg38UCSC Ensembl
Innerchr9:108464474..108465332hg19UCSC Ensembl
Outerchr9:108464459..108465351hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg38893
hg19893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744002
Samples
Known GenesTMEM38B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545255
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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