A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274960



Internal ID347807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:86497292..86497861hg38UCSC Ensembl
Outerchr11:86495988..86498514hg38UCSC Ensembl
Innerchr11:86208334..86208903hg19UCSC Ensembl
Outerchr11:86207030..86209556hg19UCSC Ensembl
Innerchr11:85885982..85886551hg18UCSC Ensembl
Outerchr11:85884678..85887204hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg382527
hg192527
hg182527
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585815, essv2585139
Samples
Known GenesME3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274960
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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