A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586040



Internal ID933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:128520469..128521242hg38UCSC Ensembl
Outerchr11:128520352..128522938hg38UCSC Ensembl
Innerchr11:128390364..128391137hg19UCSC Ensembl
Outerchr11:128390247..128392833hg19UCSC Ensembl
Innerchr11:127895574..127896347hg18UCSC Ensembl
Outerchr11:127895457..127898043hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382587
hg192587
hg182587
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275204
Supporting Variants
Samples
Known GenesETS1, MIR6090
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586040
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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