A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724305



Internal ID10307941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43280849..43285297hg38UCSC Ensembl
Outerchr22:43676855..43681303hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg384449
hg194449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6714064, essv6871596, essv6788942, essv6776767, essv6758951, essv6674968, essv6946286, essv6784770, essv6933094, essv6898483, essv6821008, essv6738708, essv6880311, essv6967646, essv6901478, essv6885855, essv6717984, essv6858940, essv6692583, essv6816428, essv6783031, essv6842786, essv6797251, essv6769372, essv6694854, essv6725649, essv6692582, essv6744827, essv6868556, essv6804294, essv6721817, essv6747667, essv6905955, essv6913808, essv6810233, essv6766439, essv6895692, essv6764096, essv6696829, essv6824784, essv6801451, essv6950334, essv6793086, essv6877556, essv6972080, essv6863758, essv6928907, essv6707132, essv6954501, essv6835992, essv6948751, essv6678979, essv6747253, essv6917247, essv6961204, essv6839795, essv6773263, essv6892182, essv6750489, essv6729441
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM097, SSM013, SSM073, SSM093, SSM050, SSM042, SSM088, SSM023, SSM028, SSM092, SSM090, SSM069, SSM062, SSM026, SSM089, SSM019, SSM032, SSM003, SSM031, SSM044, SSM066, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM010, SSM055, SSM070, SSM095, SSM025, SSM099, SSM043, SSM098, SSM056, SSM063
Known GenesSCUBE1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2724305
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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