A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555016



Internal ID18756092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:8372057..8372348hg38UCSC Ensembl
Outerchr18:8372007..8372408hg38UCSC Ensembl
Innerchr18:8372055..8372346hg19UCSC Ensembl
Outerchr18:8372005..8372406hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753763
Samples
Known GenesPTPRM
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555016
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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