A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv487e199



Internal ID20123789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24115187..24115501hg38UCSC Ensembl
chr16:24126508..24126822hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2658327, esv2659883
SamplesHG00323, HG00309, HG00537, HG00318, NA20771, NA11930, NA20522, HG00344, NA18871, HG01519, NA19819, NA12342, HG00127, HG01055, NA19114, NA07056, NA20516, HG00171, HG01083, HG00245, NA12347, NA20531, HG00160, HG00261, NA12340, NA20802, NA20775, NA19670, HG00614, HG01082, NA20816, HG00475, NA20778, HG00270, HG00553, HG00106, HG00111, HG00651, HG00280, HG00335, HG00177, HG00331, NA20798, HG00737, HG00554, HG00115, NA18559, HG00339, HG00158, NA18624, HG00250, NA18508, NA12004, NA19675, HG00259, NA19443, HG01048, NA19444, HG00610, NA20530, HG01183, HG00689, NA19083, NA12761, HG00338, HG00150, HG00258, NA11894, NA18973, NA18593, HG00284, NA19700, NA12144, NA19684, NA12006, HG00124, NA12046, HG01465, HG00653, HG00640, NA20760, HG00263, NA06986, NA19713, NA20540, HG01073, HG00239, NA19704, NA20818, HG00116, HG00103, HG01080, NA20797, HG01060, NA18543, NA20534, NA12272, NA18599, HG00181, HG01334, NA20518, NA12889, HG00262, HG01112, NA19719, HG00311, HG00123, NA18944, NA12546, HG00142, HG01366, NA18610, NA19470, NA11932, HG01177, HG00324, HG01522, HG01102, HG01462, NA20524, HG01110, NA20502, HG00271, HG00136, HG00327
Known GenesPRKCB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv487e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss125
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer