A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14630111



Internal ID4631927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129183201..129249654hg38UCSC Ensembl
chr12:129667746..129734199hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3866454
hg1966454
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631162
Supporting Variants
SamplesHG04029
Known GenesTMEM132D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14630111
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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