A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661448



Internal ID9580867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132801861..132847994hg38UCSC Ensembl
chr12:133378447..133424580hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3846134
hg1946134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6186734
SamplesNA20503
Known GenesCHFR, GOLGA3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661448
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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