A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14113208



Internal ID6653290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43643283..43665829hg38UCSC Ensembl
chr11:43664833..43687379hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3822547
hg1922547
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626148
Supporting Variants
SamplesNA20803
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14113208
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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