A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732747



Internal ID9967068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136261459..136268163hg38UCSC Ensembl
Outerchr6:136582597..136589301hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg386705
hg196705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974949, essv6826754, essv6690562, essv6897153, essv6887085, essv6962084, essv6680480, essv6918924, essv6899781, essv6890308, essv6754633, essv6969461, essv6872844, essv6923158, essv6734433, essv6934829, essv6822528, essv6907687, essv6884311, essv6694253, essv6676672, essv6849280, essv6760118, essv6786489, essv6951997, essv6671250, essv6767617, essv6814413, essv6878693, essv6947897, essv6798960, essv6757473, essv6727212, essv6855370, essv6719540, essv6896842, essv6915141, essv6778290, essv6811404, essv6911437, essv6711925, essv6729631, essv6837522, essv6939112, essv6761753, essv6818357, essv6705121, essv6869844, essv6860983, essv6845037, essv6875810, essv6697996, essv6679576, essv6704432, essv6826505, essv6715622, essv6830262, essv6833866, essv6855976, essv6701186, essv6762704, essv6667624, essv6790597, essv6963880, essv6802645, essv6929507, essv6808515, essv6881503, essv6770911, essv6930538, essv6865707, essv6687334, essv6903803, essv6961484, essv6796410, essv6708519, essv6684078, essv6730966, essv6723315, essv6746019, essv6957168, essv6704443, essv6774667, essv6888688, essv6805522, essv6748828, essv6926895, essv6782302, essv6841345, essv6740060, essv6943535, essv6751674, essv6743247, essv6794753, essv6893622
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesBCLAF1
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)esv2732747
Frequency
Sample Size96
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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