A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669519



Internal ID9935624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64018509..64019299hg38UCSC Ensembl
Outerchr11:64018352..64019452hg38UCSC Ensembl
Innerchr11:63785981..63786771hg19UCSC Ensembl
Outerchr11:63785824..63786924hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5704952, essv5946021, essv6433005, essv5953319
SamplesNA18555, NA18536, NA19078, HG00513
Known GenesMACROD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669519
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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