A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5944371



Internal ID8921774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2878303..2882691hg38UCSC Ensembl
chr12:2987469..2991857hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384389
hg194389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2667649
Supporting Variants
SamplesNA18907
Known GenesRHNO1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5944371
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