A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549723



Internal ID18750799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104452931..104454035hg38UCSC Ensembl
Outerchr12:104452862..104454262hg38UCSC Ensembl
Innerchr12:104846709..104847813hg19UCSC Ensembl
Outerchr12:104846640..104848040hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748470
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549723
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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