A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv267e199



Internal ID22758040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11029212..11064399hg38UCSC Ensembl
chr12:11181811..11216998hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3835188
hg1935188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2665219, esv2674668
SamplesHG00143, NA20508, NA19066, NA19092, HG01140, NA19660, HG00251, HG00281, HG00120, HG00335, HG00118, HG00133, HG00245, NA18548, HG00284, HG00250, HG00276, NA18536, HG00258, HG00476, HG00254, HG00707, HG00147, HG00362
Known GenesPRH1-PRR4, TAS2R31, TAS2R46
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv267e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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