A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735675



Internal ID9970006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157288269..157403297hg38UCSC Ensembl
Outerchr7:157080963..157195991hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38115029
hg19115029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891399, essv6760347, essv6870115, essv6767857, essv6890575, essv6687614, essv6915433, essv6698189, essv6932250, essv6795100, essv6771219, essv6740345, essv6737282, essv6798977, essv6712249, essv6694648, essv6799309, essv6964673, essv6786845, essv6719830, essv6943910, essv6845307, essv6734638, essv6935172, essv6919306, essv6818706, essv6952333, essv6841638, essv6822828, essv6687613, essv6690841, essv6969831, essv6908017, essv6808752, essv6964400, essv6873107, essv6900037, essv6858843, essv6712248, essv6904109, essv6684363, essv6764487, essv6727542, essv6884535, essv6782628, essv6893919, essv6805781, essv6830569, essv6802886, essv6681787, essv6705426, essv6903152, essv6811649, essv6778631, essv6814701, essv6754880, essv6676987, essv6923475, essv6715930, essv6834163, essv6706320, essv6743452, essv6887357, essv6828965, essv6876055, essv6667783, essv6849785, essv6948242, essv6939448, essv6837829, essv6774948, essv6749045, essv6708789, essv6757671, essv6731820, essv6751913, essv6826841, essv6927192, essv6866106, essv6723642, essv6930892, essv6790951, essv6861380, essv6731275, essv6957700, essv6891410, essv6746235
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM038, SSM097, SSM013, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM067, SSM044, SSM014, SSM086, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM012
Known GenesDNAJB6
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)esv2735675
Frequency
Sample Size96
Observed Gain0
Observed Loss84
Observed Complex0
Frequencyn/a


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