A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745753



Internal ID5056485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:33029371..33029675hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6882318, essv6677824
SamplesSSM032, SSM094
Known GenesPKP2
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2745753
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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