A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549730



Internal ID18750806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:105287211..105287818hg38UCSC Ensembl
Outerchr12:105287177..105287824hg38UCSC Ensembl
Innerchr12:105680989..105681596hg19UCSC Ensembl
Outerchr12:105680955..105681602hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748477
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549730
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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