A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14218744



Internal ID473772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:82153690..82171017hg38UCSC Ensembl
chr11:81864732..81882059hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3817328
hg1917328
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626987
Supporting Variants
SamplesHG00154
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14218744
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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