A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv319e199



Internal ID20123621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121164341..121167587hg38UCSC Ensembl
chr12:121602144..121605390hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383247
hg193247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2669036, esv2678756
SamplesHG01350
Known GenesP2RX7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv319e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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