A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5895080



Internal ID8872483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121266605..121267602hg38UCSC Ensembl
chr12:121704408..121705405hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660506
Supporting Variants
SamplesNA12778
Known GenesCAMKK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5895080
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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