A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721551



Internal ID5068841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:228058628..228058814hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6872075, essv6793774, essv6833013, essv6848076
SamplesSSM082, SSM091, SSM071, SSM011
Known GenesCOL4A3
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2721551
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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