A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747352



Internal ID18374912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:919745..920413hg38UCSC Ensembl
Outerchr12:919584..920542hg38UCSC Ensembl
Innerchr12:1028911..1029579hg19UCSC Ensembl
Outerchr12:1028750..1029708hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38959
hg19959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3548605
Supporting Variants
Samples
Known GenesRAD52
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747352
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