A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665180



Internal ID9931285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11310783..11310905hg38UCSC Ensembl
chr5:11310895..11311017hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6507287, essv6315763, essv6580511, essv5955673, essv5601520, essv6288903, essv6274414, essv6037433, essv6308689, essv6304400, essv6199637, essv5972699, essv5533706
SamplesHG00589, HG00702, NA18571, HG00557, HG00436, HG00583, NA18566, HG00690, NA18532, HG00476, HG00418, HG00620, HG00437
Known GenesCTNND2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665180
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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