A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2734888

Internal ID5045620
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99573246..100933566hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6763609, essv6919183, essv6948135, essv6902452, essv6841548, essv6731054, essv6957553, essv6790851, essv6687524, essv6893833, essv6841546, essv6893829, essv6765210, essv6731196, essv6931440, essv6748975, essv6837750, essv6698127, essv6939356, essv6887271, essv6705676, essv6931462, essv6952240, essv6782523, essv6957550, essv6919188, essv6904017, essv6939355, essv6884474, essv6798298, essv6930796, essv6969736, essv6952237, essv6822740, essv6943801, essv6849649, essv6767800, essv6705698, essv6802811, essv6873026, essv6902474, essv6808670, essv6762824, essv6907910, essv6865978, essv6857943, essv6902441, essv6931451, essv6904019, essv6708700, essv6715836, essv6681210, essv6875979, essv6890486, essv6705331, essv6822739, essv6907911, essv6915341, essv6802810, essv6855713, essv6814618, essv6830480, essv6923381, essv6799206, essv6890484, essv6771127, essv6904016, essv6740269, essv6684279, essv6841545, essv6915339, essv6948138, essv6754800, essv6778526, essv6948137, essv6805701, essv6845214, essv6671615, essv6919186, essv6802807, essv6828309, essv6822738, essv6715834, essv6760277, essv6830478, essv6890565, essv6849646, essv6865984, essv6890482, essv6845215, essv6814617, essv6963929, essv6939354, essv6855711, essv6763575, essv6767801, essv6865980, essv6865979, essv6893831, essv6830479, essv6811564, essv6763586, essv6923380, essv6974928, essv6765209, essv6975039, essv6687525, essv6811563, essv6841547, essv6719751, essv6712147, essv6911642, essv6899956, essv6911639, essv6705328, essv6818605, essv6845213, essv6963940, essv6771126, essv6727447, essv6715837, essv6818606, essv6943804, essv6878852, essv6964245, essv6935079, essv6963962, essv6948139, essv6774865, essv6890587, essv6865981, essv6676892, essv6849648, essv6762822, essv6737204, essv6737203, essv6743383, essv6870032, essv6701433, essv6887270, essv6705329, essv6705327, essv6701435, essv6705330, essv6923379, essv6705687, essv6680702, essv6727446, essv6684280, essv6748974, essv6865982, essv6680705, essv6828298, essv6957549, essv6837749, essv6701434, essv6762818, essv6743381, essv6743384, essv6799207, essv6890483, essv6849650, essv6873028, essv6957546, essv6751847, essv6731065, essv6694545, essv6878855, essv6849647, essv6837751, essv6708699, essv6790850, essv6771125, essv6907909, essv6963917, essv6911638, essv6680703, essv6969738, essv6734577, essv6782524, essv6855707, essv6964247, essv6952241, essv6798309, essv6715838, essv6671616, essv6902463, essv6684278, essv6890576, essv6808671, essv6902430, essv6899953, essv6737205, essv6870030, essv6746163, essv6737202, essv6694547, essv6754799, essv6899954, essv6890485, essv6723555, essv6802808, essv6841543, essv6834086, essv6930798, essv6731195, essv6896991, essv6948136, essv6774866, essv6964248, essv6952236, essv6786744, essv6690760, essv6748973, essv6799205, essv6855712, essv6935078, essv6957548, essv6849651, essv6705710, essv6952238, essv6712148, essv6893830, essv6861266, essv6740270, essv6828287, essv6743382, essv6762823, essv6748977, essv6757607, essv6975353, essv6969735, essv6790852, essv6731076, essv6930797, essv6919187, essv6715835, essv6805700, essv6786745, essv6680704, essv6943802, essv6790853, essv6964249, essv6794995, essv6861263, essv6834088, essv6798320, essv6931429, essv6975354, essv6919184, essv6751846, essv6762821, essv6731043, essv6969734, essv6878853, essv6881663, essv6964246, essv6875978, essv6740268, essv6969737, essv6698128, essv6915338, essv6790849, essv6794994, essv6927101, essv6778528, essv6855708, essv6881665, essv6957552, essv6957547, essv6841544, essv6911640, essv6974817, essv6927100, essv6746162, essv6694546, essv6927099, essv6767799, essv6873027, essv6723556, essv6734578, essv6786747, essv6857932, essv6778527, essv6865983, essv6786746, essv6935077, essv6943803, essv6975356, essv6904020, essv6763598, essv6723557, essv6757608, essv6963951, essv6927103, essv6774863, essv6715833, essv6974706, essv6975355, essv6927102
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070
Known GenesACHE, ACTL6B, AGFG2, AP1S1, AP4M1, AZGP1, AZGP1P1, C7orf43, C7orf47, C7orf51, C7orf52, C7orf59, C7orf61, CLDN15, CNPY4, COPS6, EPHB4, EPO, FBXO24, FIS1, GAL3ST4, GATS, GIGYF1, GNB2, GPC2, LOC100129845, LRCH4, MBLAC1, MCM7, MEPCE, MIR106B, MIR25, MIR4653, MIR4658, MIR93, MOGAT3, MOSPD3, MUC12, MUC17, PCOLCE, PILRA, PILRB, PLOD3, PMS2P1, POP7, PVRIG, SAP25, SERPINE1, SLC12A9, SPDYE3, SRRT, STAG3, TAF6, TFR2, TRIM56, TRIP6, TSC22D4, UFSP1, VGF, ZAN, ZCWPW1, ZKSCAN1, ZNF3, ZNHIT1, ZSCAN21
PlatformIllumina HiSeq2000
Pubmed ID23290073
Accession Number(s)esv2734888
Sample Size96
Observed Gain0
Observed Loss94
Observed Complex0

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