A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14649522



Internal ID427943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132526489..132536655hg38UCSC Ensembl
chr12:133103075..133113241hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3810167
hg1910167
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631299
Supporting Variants
SamplesHG00130
Known GenesFBRSL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14649522
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