A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740170



Internal ID9974512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52560686..52862729hg38UCSC Ensembl
OuterchrX:52589698..52891758hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38302044
hg19302061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802940, essv6740405, essv6861463, essv6881793, essv6791056, essv6778729, essv6932818, essv6923564, essv6931001, essv6746289, essv6957865, essv6952436, essv6931002, essv6754941, essv6701618, essv6712334, essv6897116, essv6731363, essv6859509, essv6805830, essv6876113, essv6767928, essv6870172, essv6749118, essv6952435, essv6682310, essv6849933, essv6698241, essv6900087, essv6795185, essv6786952, essv6873155, essv6690931, essv6674709, essv6818797, essv6890640, essv6775039, essv6698240, essv6948331, essv6740404, essv6923565, essv6904206, essv6866206, essv6760411, essv6811694, essv6694739, essv6799654, essv6908110, essv6908109, essv6814771, essv6719930, essv6829586, essv6706809, essv6687681, essv6884590, essv6892377, essv6834241, essv6969938, essv6757728, essv6727613, essv6775038, essv6743495, essv6903719, essv6919395, essv6802941, essv6677051, essv6734689, essv6782741, essv6957866, essv6964553, essv6878971, essv6830652, essv6754942, essv6751985, essv6737337, essv6757727, essv6859520, essv6734690, essv6944024, essv6771325, essv6708860, essv6841737, essv6911836, essv6723758, essv6965339, essv6671882, essv6760412, essv6808800, essv6927277, essv6876112, essv6855974, essv6731362, essv6915513, essv6829575, essv6975702, essv6743496, essv6732510, essv6705520, essv6837925, essv6716030, essv6667838, essv6927276, essv6826919, essv6939542, essv6762933, essv6737336, essv6751984, essv6771324, essv6680887, essv6919397, essv6915512, essv6765299, essv6680889, essv6845382, essv6674598, essv6873156, essv6799416, essv6732521, essv6705519, essv6749117, essv6782742, essv6935260, essv6791057, essv6855975, essv6904208, essv6765316, essv6870173, essv6684431, essv6893994, essv6822904, essv6944025, essv6892388
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, 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 GenesSPANXN5, SSX2, SSX2B, SSX7, SSX8, XAGE3, XAGE5
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)esv2740170
Frequency
Sample Size96
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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