A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677842



Internal ID9597261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116251435..116254782hg38UCSC Ensembl
chr12:116689240..116692587hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6586169, essv6155025, essv6549218, essv6487285, essv5434679
SamplesNA19819, NA19383, NA19213, NA19138, NA19198
Known GenesMED13L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677842
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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