A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724275



Internal ID9958576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42123193..42141302hg38UCSC Ensembl
Outerchr22:42519197..42537312hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3818110
hg1918116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753394, essv6895688, essv6717981, essv6666657, essv6972072, essv6782998, essv6921525, essv6883147, essv6791820, essv6946279, essv6733324, essv6797247, essv6898481, essv6835986, essv6769369, essv6769367, essv6928902, essv6933092, essv6917246, essv6835988, essv6747209, essv6742003, essv6843700, essv6842753, essv6686013, essv6725644, essv6717965, essv6678971, essv6703661, essv6791932, essv6863754, essv6815643, essv6747220, essv6747666, essv6905953, essv6801447, essv6868552, essv6707127, essv6885852, essv6909885, essv6877553, essv6925512, essv6880308, essv6967644, essv6901475, essv6972075, essv6928903, essv6828830, essv6776763, essv6735896, essv6733322, essv6807243, essv6689130, essv6902353, essv6773259, essv6699477, essv6793080, essv6782987, essv6692581, essv6815654, essv6804293, essv6773260, essv6909886, essv6921524, essv6858934, essv6858935, essv6824781, essv6961197, essv6753395, essv6744822, essv6954494, essv6738705, essv6842742, essv6694809, essv6696824, essv6863752, essv6871592, essv6750485, essv6933091, essv6769368, essv6961198, essv6667966, essv6721814, essv6917245, essv6821005, essv6898482, essv6967642, essv6828828, essv6813047, essv6810229, essv6742004, essv6735897, essv6816424, essv6692580, essv6764093, essv6729436, essv6885851, essv6852958, essv6839791, essv6898480, essv6839792, essv6773258, essv6776764, essv6696825, essv6902354, essv6828829, essv6954493, essv6917244, essv6747664, essv6747231, essv6717976, essv6801446, essv6895689, essv6666656, essv6667977, essv6961199, essv6892179, essv6950331, essv6761752, essv6729437, essv6725642, essv6807241, essv6780649, essv6821004, essv6937461, essv6843699, essv6843697, essv6744824, essv6694798, essv6733323, essv6846841, essv6967643, essv6756428, essv6883146, essv6871591, essv6756427, essv6710431, essv6710430, essv6832404, essv6738704, essv6868551, essv6874577, essv6852957, essv6813046, essv6905951, essv6797248, essv6780648, essv6668808, essv6846840, essv6750484, essv6925511, essv6678972, essv6788937, essv6888874, essv6875320, essv6972074, essv6824780, essv6744823, essv6764094
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM088, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM067, SSM044, SSM001, SSM014, SSM086, SSM066, SSM006, SSM085, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM012
Known GenesCYP2D6, CYP2D7P, NDUFA6-AS1
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)esv2724275
Frequency
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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