A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5664091



Internal ID9671295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55190238..55191130hg38UCSC Ensembl
chr12:55584022..55584914hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38893
hg19893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2662626
Supporting Variants
SamplesNA19401
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5664091
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