A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549181



Internal ID18750257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49315432..49316559hg38UCSC Ensembl
Outerchr12:49315380..49316762hg38UCSC Ensembl
Innerchr12:49709215..49710342hg19UCSC Ensembl
Outerchr12:49709163..49710545hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381383
hg191383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747928
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549181
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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