A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748845



Internal ID18723091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132780121..132780188hg38UCSC Ensembl
chr12:133356707..133356774hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3550098
Supporting Variants
Samples
Known GenesGOLGA3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748845
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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