A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549721



Internal ID18404111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104337200..104338665hg38UCSC Ensembl
Outerchr12:104336896..104338728hg38UCSC Ensembl
Innerchr12:104730978..104732443hg19UCSC Ensembl
Outerchr12:104730674..104732506hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381833
hg191833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748468
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549721
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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