A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627294



Internal ID6667442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:93485306..93944317hg38UCSC Ensembl
chr11:93218472..93677483hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38459012
hg19459012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14237817
SamplesNA19377
Known GenesC11orf54, KIAA1731, MED17, MIR1304, SCARNA9, SMCO4, SNORA1, SNORA18, SNORA25, SNORA32, SNORA40, SNORA8, SNORD5, SNORD6, TAF1D, VSTM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627294
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer