A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664609



Internal ID9584028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10995640..11052917hg38UCSC Ensembl
chr12:11148239..11205516hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3857278
hg1957278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6451345
SamplesNA19681
Known GenesPRH1-PRR4, TAS2R19, TAS2R20, TAS2R31
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664609
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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