A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14289759



Internal ID4291575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114568348..114603418hg38UCSC Ensembl
chr11:114439070..114474140hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3835071
hg1935071
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627794
Supporting Variants
SamplesNA18532
Known GenesNXPE4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14289759
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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