A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740181



Internal ID9974523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55080912..55286562hg38UCSC Ensembl
OuterchrX:55107345..55312995hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38205651
hg19205651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674820, essv6881795, essv6690934, essv6904209, essv6757730, essv6687683, essv6908112, essv6694742, essv6829598, essv6671888, essv6690935, essv6749119, essv6890642, essv6855979, essv6791058, essv6939543, essv6822905, essv6694740, essv6771326, essv6682332, essv6719933, essv6931003, essv6892399, essv6965361, essv6677053, essv6903741, essv6760413, essv6873157, essv6805833, essv6786955, essv6765318, essv6690936, essv6712335, essv6760414, essv6948332, essv6667840, essv6964557, essv6944026, essv6915514, essv6927279, essv6802942, essv6952437, essv6786953, essv6727614, essv6845383, essv6893995, essv6884592, essv6830654, essv6746291, essv6698244, essv6684433, essv6795186, essv6731366, essv6923567, essv6775044, essv6767929, essv6782744, essv6754944, essv6705522, essv6771327, essv6706832, essv6965350, essv6701619, essv6795188, essv6732543, essv6903730, essv6671886, essv6775043, essv6900089, essv6719934, essv6876114, essv6799418, essv6740407, essv6826923, essv6716032, essv6932829, essv6927278, essv6837926, essv6799665, essv6849936, essv6814772, essv6808801, essv6826922, essv6811695, essv6859531, essv6701620, essv6778731, essv6734691, essv6834245, essv6841738, essv6808802, essv6919399, essv6762934, essv6861467, essv6778730, essv6969939, essv6897117, essv6698243, essv6694741, essv6948333, essv6746290, essv6708862, essv6957871, essv6743498, essv6919398, essv6799419, essv6870174, essv6944027, essv6712336, essv6887411, essv6680892, essv6751988, essv6719935, essv6680891, essv6975708, essv6767930, essv6904210, essv6799676, essv6731365, essv6878972, essv6723759, essv6957870, essv6969941, essv6802944, essv6911838, essv6667839, essv6845384, essv6911839, essv6765321, essv6740408, essv6737338, essv6732554, essv6866210, essv6708861, essv6939544, essv6975704, essv6723760, essv6931004, essv6791059, essv6818799, essv6849937, essv6935261, essv6923566
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, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesFAM104B, MTRNR2L10, PAGE2, PAGE3, PAGE5
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)esv2740181
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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