A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1667239



Internal ID5797339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132674848..132674905hg38UCSC Ensembl
chr12:133251434..133251491hg19UCSC Ensembl
chr12:131761507..131761564hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4291685
SamplesHuRef
Known GenesPOLE
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1667239
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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