A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748587



Internal ID18722833
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 StatusS
Merged Variantsesv3549840
Supporting Variants
Samples
Known GenesFBXW8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748587
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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