A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275318



Internal ID348224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:119911347..119914356hg38UCSC Ensembl
Outerchr11:119905102..119914651hg38UCSC Ensembl
Innerchr11:119782056..119785065hg19UCSC Ensembl
Outerchr11:119775811..119785360hg19UCSC Ensembl
Innerchr11:119287266..119290275hg18UCSC Ensembl
Outerchr11:119281021..119290570hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg389550
hg199550
hg189550
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586090, essv2585216
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275318
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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