A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721279



Internal ID5068569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:191918756..191918921hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6707650, essv6906563, essv6853901
SamplesSSM041, SSM087, SSM014
Known GenesSTAT4
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2721279
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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