A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422284



Internal ID3032061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133180834..133285507hg19UCSC Ensembl
Innerchr12:131690907..131795580hg18UCSC Ensembl
Innerchr12:131791184..131895857hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5161513
SamplesND03355
Known GenesLOC100507055, P2RX2, POLE, PXMP2
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422284
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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