A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14280561



Internal ID1949721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:109525949..109530154hg38UCSC Ensembl
chr11:109396675..109400880hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg384206
hg194206
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627705
Supporting Variants
SamplesHG01808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14280561
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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