A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549773



Internal ID18404163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111858778..111859371hg38UCSC Ensembl
Outerchr12:111858624..111859434hg38UCSC Ensembl
Innerchr12:112296582..112297175hg19UCSC Ensembl
Outerchr12:112296428..112297238hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748520
Samples
Known GenesMAPKAPK5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549773
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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