A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748520



Internal ID18376080
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 StatusS
Merged Variantsesv3549773
Supporting Variants
Samples
Known GenesMAPKAPK5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748520
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer