A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549840



Internal ID18750916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117026228..117026415hg38UCSC Ensembl
Outerchr12:117026225..117026419hg38UCSC Ensembl
Innerchr12:117464033..117464220hg19UCSC Ensembl
Outerchr12:117464030..117464224hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748587
Samples
Known GenesFBXW8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549840
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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