A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627732



Internal ID6667879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111293219..111297467hg38UCSC Ensembl
chr11:111163944..111168192hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg384249
hg194249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14286891, essv14286890, essv14286892, essv14286893
SamplesNA19700, NA12813, HG04159, HG02808
Known GenesCOLCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627732
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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