A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740182



Internal ID9974524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55146147..55159114hg38UCSC Ensembl
OuterchrX:55172580..55185547hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3812968
hg1912968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674820, essv6881795, essv6904209, essv6757730, essv6687683, essv6908112, essv6829598, essv6690935, essv6749119, essv6890642, essv6855979, essv6791058, essv6939543, essv6822905, essv6771326, essv6682332, essv6931003, essv6892399, essv6677053, essv6760413, essv6873157, essv6805833, essv6765318, essv6712335, essv6964557, essv6944026, essv6915514, essv6802942, essv6952437, essv6786953, essv6727614, essv6845383, essv6893995, essv6884592, essv6830654, essv6684433, essv6795186, essv6923567, essv6767929, essv6782744, essv6754944, essv6705522, essv6706832, essv6965350, essv6701619, essv6732543, essv6903730, essv6671886, essv6775043, essv6900089, essv6719934, essv6876114, essv6799418, essv6740407, essv6716032, essv6932829, essv6927278, essv6837926, essv6799665, essv6849936, essv6814772, essv6826922, essv6811695, essv6859531, essv6734691, essv6834245, essv6841738, essv6808802, essv6762934, essv6861467, essv6778730, essv6969939, essv6897117, essv6698243, essv6694741, essv6948333, essv6746290, essv6743498, essv6919398, essv6870174, essv6887411, essv6751988, essv6680891, essv6731365, essv6878972, essv6723759, essv6957870, essv6911838, essv6667839, essv6765321, essv6737338, essv6866210, essv6708861, essv6975704, essv6818799, essv6935261
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
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)esv2740182
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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