A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14118536



Internal ID1739209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45759499..45769059hg38UCSC Ensembl
chr11:45781050..45790610hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg389561
hg199561
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626177
Supporting Variants
SamplesHG01608
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14118536
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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