A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735218



Internal ID9969548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138611640..138612452hg38UCSC Ensembl
Outerchr7:138296385..138297197hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858298, essv6904053, essv6845240, essv6767822, essv6849701, essv6935106, essv6731219, essv6751871, essv6715862, essv6890525, essv6760302, essv6681443, essv6855764, essv6737229, essv6923416, essv6830510, essv6719786, essv6731320, essv6802834, essv6774892, essv6969775, essv6798520, essv6687563, essv6828487, essv6786777, essv6897022, essv6881693, essv6782558, essv6826773, essv6671670, essv6698145, essv6705358, essv6763942, essv6740297, essv6705876, essv6948173, essv6964307, essv6943836, essv6811600, essv6723581, essv6771162, essv6822778, essv6667749, essv6805738, essv6754827, essv6915367, essv6976817, essv6957606, essv6818651, essv6762848, essv6757627, essv6712179, essv6884496, essv6837783, essv6795035, essv6931773, essv6907954, essv6893862, essv6890822, essv6878877, essv6873051, essv6919225, essv6975429, essv6684320, essv6676930, essv6701477, essv6727472, essv6814650, essv6861312, essv6799238, essv6765228, essv6870063, essv6680726, essv6708736, essv6899985, essv6876005, essv6748999, essv6743413, essv6746192, essv6690790, essv6939387, essv6790881, essv6866027, essv6841580, essv6964151, essv6778558, essv6930827, essv6902708, essv6911671, essv6887299, essv6734597, essv6694586, essv6927127, essv6834112, essv6808702
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, 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, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesSVOPL
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)esv2735218
Frequency
Sample Size96
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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