A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545154



Internal ID18746230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:95503733..95503988hg38UCSC Ensembl
Outerchr9:95503727..95504051hg38UCSC Ensembl
Innerchr9:98266015..98266270hg19UCSC Ensembl
Outerchr9:98266009..98266333hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv490e215
Supporting Variantsessv9743901
Samples
Known GenesPTCH1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545154
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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