A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724307



Internal ID10307943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43280849..43281538hg38UCSC Ensembl
Outerchr22:43676855..43677544hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv735e201
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, 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, 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)esv2724307
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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