A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548652



Internal ID18403042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4279598..4280162hg38UCSC Ensembl
Outerchr12:4279543..4280234hg38UCSC Ensembl
Innerchr12:4388764..4389328hg19UCSC Ensembl
Outerchr12:4388709..4389400hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38692
hg19692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747399
Samples
Known GenesCCND2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548652
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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