A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717833



Internal ID5065123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1207982..1208220hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6950132, essv6946072
SamplesSSM024, SSM023
Known GenesSTK11
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2717833
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