A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv265e199



Internal ID20123567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11014581..11075113hg38UCSC Ensembl
chr12:11167180..11227712hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3860533
hg1960533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2660822, esv2676132, esv2665161, esv2674625, esv2678674, esv2671937
SamplesNA12058, HG00693, HG00458, NA19062, NA20775, NA18985, NA18908, HG00133, HG00332, NA20506, NA18579, HG01047, HG00146, HG00407, HG00258, NA18961, HG00123
Known GenesPRH1-PRR4, TAS2R19, TAS2R31, TAS2R46
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv265e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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