A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732553



Internal ID10316189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:107710084..107711273hg38UCSC Ensembl
Outerchr6:108031288..108032477hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381190
hg191190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6794736, essv6770895, essv6869825, essv6845025, essv6730952, essv6786473, essv6929396, essv6974908, essv6748813, essv6814394, essv6805505, essv6888576, essv6701159, essv6687314, essv6680466, essv6855798, essv6918911, essv6903787, essv6796253, essv6790585, essv6907655, essv6762693, essv6754612, essv6708506, essv6841334, essv6667613, essv6915133, essv6761631, essv6697975, essv6767609, essv6751657, essv6930514, essv6855341, essv6774656, essv6679377, essv6798942, essv6878679, essv6676649, essv6690541, essv6826475, essv6934809, essv6881483, essv6811384, essv6778272, essv6727192, essv6887072, essv6743236, essv6760102, essv6715605, essv6818322, essv6671211, essv6734414, essv6923142, essv6704299, essv6875798, essv6802630, essv6719513, essv6890292, essv6959817, essv6896829, essv6826587, essv6899764, essv6963844, essv6951981, essv6911426, essv6865675, essv6765074, essv6884297, essv6837503, essv6705103, essv6737022, essv6969448, essv6872832, essv6893603, essv6957128, essv6947880, essv6684056, essv6939097, essv6830245, essv6740044, essv6808497, essv6943515, essv6729542, essv6757456, essv6723301, essv6711915, essv6895931, essv6860957, essv6782291
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesSCML4
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)esv2732553
Frequency
Sample Size96
Observed Gain0
Observed Loss89
Observed Complex0
Frequencyn/a


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