A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5482859



Internal ID8460262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111858637..111859372hg38UCSC Ensembl
chr12:112296441..112297176hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2665280
Supporting Variants
SamplesHG00556
Known GenesMAPKAPK5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5482859
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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