A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669119



Internal ID9588538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49908358..49908782hg38UCSC Ensembl
chr22:50302006..50302430hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6042324, essv5537051, essv6301362, essv5602248, essv5734405, essv6118758, essv5993003, essv5873716, essv5930389, essv6593612, essv5944476, essv6196266, essv6042316, essv6289505, essv6453317, essv6175998, essv5537169, essv5928532, essv5480219, essv5762033, essv6361734, essv5469824, essv5426420, essv6362131, essv5574590, essv6060135, essv5829111, essv5867945, essv6401991, essv5669890, essv5985188, essv6170221, essv6400638, essv5896702, essv5644154, essv6537402, essv5538039, essv6406007, essv5591798, essv6433277, essv5553808, essv5826037, essv6593884, essv5968075, essv5982773, essv6457900, essv6238298, essv6166858, essv6540087, essv6366957, essv5811952, essv6474112, essv6007455, essv6136575, essv5999932, essv5773897, essv6141796, essv5466405, essv5740654, essv6079478, essv5563491, essv5398248, essv5597740, essv6585003, essv5551233, essv5801790, essv5660122, essv6191729, essv6375556, essv5921958, essv6378491, essv6464234, essv5513776, essv6328888, essv5781524, essv6290466, essv5911316, essv6009524, essv5998747, essv5535889, essv5803893, essv5965970
SamplesNA19312, NA12154, HG00537, NA19436, NA20809, NA18535, HG00418, NA18874, NA18612, NA19093, NA19401, NA20796, NA20535, HG00707, NA19223, NA19435, NA19317, NA19334, NA19451, HG00148, NA19920, NA12058, NA07051, HG00366, NA19701, NA19355, NA20322, NA19472, NA19467, NA20521, NA18873, HG00154, NA19914, NA19067, NA19428, NA19383, NA19057, NA19675, HG00140, NA19443, NA18990, NA19396, NA19397, NA19398, HG00533, HG00419, NA11894, NA19835, HG00403, HG00133, NA19055, NA19360, NA19377, NA19380, NA19395, NA19372, NA19375, HG00732, NA19657, NA19704, NA18487, NA19347, NA18613, NA19707, NA19318, NA19462, NA18543, HG00427, NA19376, HG00611, NA18538, NA19403, HG00118, NA19818, NA19452, NA12546, HG00422, NA19470, HG00442, NA19350, NA19381, NA19385
Known GenesALG12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669119
Frequency
Sample Size1151
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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