A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627794



Internal ID6667941
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14289759
SamplesNA18532
Known GenesNXPE4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627794
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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