A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14123816



Internal ID3921220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47903887..47916398hg38UCSC Ensembl
chr11:47925439..47937950hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3812512
hg1912512
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626217
Supporting Variants
SamplesHG03575
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14123816
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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