A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549273



Internal ID18403663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59671113..59672453hg38UCSC Ensembl
Outerchr12:59670918..59672556hg38UCSC Ensembl
Innerchr12:60064894..60066234hg19UCSC Ensembl
Outerchr12:60064699..60066337hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381639
hg191639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748020
Samples
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549273
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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