A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668100



Internal ID9587519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:103013034..103016340hg38UCSC Ensembl
Outerchr9:103012663..103016710hg38UCSC Ensembl
Innerchr9:105775316..105778622hg19UCSC Ensembl
Outerchr9:105774945..105778992hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg384048
hg194048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5942626, essv5876243, essv6349717, essv6238021, essv5854839, essv6159280, essv5601985, essv5957016, essv5625783, essv6262162, essv6194684, essv6551363, essv5770954, essv5543041, essv5638246, essv5533494, essv6471929, essv6085359, essv5927419, essv5838495, essv6051566, essv5794012, essv6077132, essv6546979, essv6463958, essv6254887, essv5799964, essv6001672, essv6105462, essv5929103, essv5642438, essv6408844, essv5741882, essv6076197, essv5742878, essv5581689, essv6443625, essv6138134, essv6283160, essv6587070, essv5510782, essv6415080, essv5574183, essv5891097, essv5634720, essv5779965, essv5451049, essv6419441, essv5866720, essv5986139, essv6279788, essv5846908, essv5428100, essv6001946, essv5587276, essv6562552, essv6295085, essv6541397, essv5396455, essv6242047, essv6507473, essv6193624, essv5711142, essv6290590, essv6449027, essv6297432, essv5610549, essv6236663, essv5518647, essv5625499, essv5646436, essv5450900, essv6561634
SamplesNA19058, NA19055, NA18947, NA19066, NA18980, NA18999, NA19057, NA18959, NA19067, NA18988, NA18967, NA19068, NA19076, NA19005, NA18944, NA18940, NA18982, NA18960, NA18942, NA19062, NA19054, NA18964, NA19079, NA18949, NA19075, NA18986, NA19087, NA19002, NA18990, NA18985, NA18975, NA18973, NA19007, NA18951, NA19070, NA19056, NA19077, NA18956, NA19081, NA18976, NA18948, NA18981, NA19064, NA19000, NA19084, NA19059, NA18963, NA18945, NA19012, NA18953, NA19003, NA18961, NA19072, NA18950, NA18941, NA19010, NA19083, NA18943, NA19085, NA19078, NA18971, NA19060, NA18987, NA19080, NA18972, NA18983, NA18984, NA18989, NA19004, NA18968, NA19063, NA19065, NA19074
Known GenesCYLC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668100
Frequency
Sample Size1151
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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