A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549104



Internal ID18750180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41266029..41266318hg38UCSC Ensembl
Outerchr12:41265984..41266383hg38UCSC Ensembl
Innerchr12:41659831..41660120hg19UCSC Ensembl
Outerchr12:41659786..41660185hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747851
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549104
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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