A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734888



Internal ID3285384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99975623..101290285hg38UCSC Ensembl
Outerchr7:99573246..100933566hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381314663
hg191360321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763609, essv6919183, essv6948135, essv6902452, essv6841548, essv6731054, essv6957553, essv6790851, essv6687524, essv6893833, essv6841546, essv6893829, essv6765210, essv6731196, essv6931440, essv6837750, essv6748975, essv6698127, essv6939356, essv6887271, essv6705676, essv6931462, essv6952240, essv6782523, essv6957550, essv6904017, essv6919188, essv6939355, essv6884474, essv6952237, essv6930796, essv6798298, essv6969736, essv6822740, essv6943801, essv6767800, essv6849649, essv6705698, essv6802811, essv6873026, essv6902474, essv6762824, essv6808670, essv6907910, essv6902441, essv6857943, essv6865978, essv6931451, essv6904019, essv6715836, essv6681210, essv6708700, essv6890486, essv6875979, essv6822739, essv6705331, essv6907911, essv6915341, essv6814618, essv6855713, essv6802810, essv6830480, essv6923381, essv6890484, essv6799206, essv6771127, essv6904016, essv6740269, essv6684279, essv6841545, essv6778526, essv6915339, essv6948138, essv6754800, essv6948137, essv6805701, essv6845214, essv6671615, essv6919186, essv6828309, essv6822738, essv6802807, essv6715834, essv6760277, essv6830478, essv6890565, essv6849646, essv6865984, essv6890482, essv6845215, essv6814617, essv6963929, essv6939354, essv6855711, essv6763575, essv6767801, essv6830479, essv6811564, essv6865979, essv6865980, essv6893831, essv6763586, essv6974928, essv6923380, essv6765209, essv6975039, essv6687525, essv6811563, essv6841547, essv6719751, essv6911642, essv6712147, essv6899956, essv6911639, essv6705328, essv6818605, essv6845213, essv6963940, essv6727447, essv6771126, essv6715837, essv6943804, essv6818606, essv6878852, essv6964245, essv6935079, essv6963962, essv6774865, essv6890587, essv6948139, essv6676892, essv6865981, essv6762822, essv6849648, essv6737203, essv6737204, essv6701433, essv6743383, essv6870032, essv6887270, essv6705329, essv6701435, essv6705327, essv6705330, essv6923379, essv6727446, essv6680702, essv6705687, essv6684280, essv6748974, essv6865982, essv6828298, essv6680705, essv6957549, essv6701434, essv6837749, essv6762818, essv6743381, essv6743384, essv6799207, essv6890483, essv6873028, essv6849650, essv6957546, essv6751847, essv6731065, essv6694545, essv6878855, essv6837751, essv6849647, essv6790850, essv6708699, essv6771125, essv6907909, essv6911638, essv6963917, essv6680703, essv6969738, essv6734577, essv6782524, essv6855707, essv6964247, essv6952241, essv6715838, essv6902463, essv6671616, essv6798309, essv6684278, essv6890576, essv6902430, essv6808671, essv6737205, essv6899953, essv6737202, essv6694547, essv6746163, essv6870030, essv6890485, essv6754799, essv6899954, essv6723555, essv6834086, essv6841543, essv6802808, essv6731195, essv6930798, essv6774866, essv6948136, essv6896991, essv6952236, essv6964248, essv6786744, essv6690760, essv6748973, essv6799205, essv6855712, essv6957548, essv6935078, essv6849651, essv6705710, essv6952238, essv6712148, essv6861266, essv6893830, essv6828287, essv6740270, essv6743382, essv6762823, essv6748977, essv6757607, essv6975353, essv6969735, essv6790852, essv6731076, essv6919187, essv6930797, essv6715835, essv6805700, essv6786745, essv6943802, essv6680704, essv6790853, essv6964249, essv6861263, essv6834088, essv6794995, essv6798320, essv6931429, essv6975354, essv6919184, essv6751846, essv6762821, essv6731043, essv6969734, essv6878853, essv6881663, essv6964246, essv6740268, essv6875978, essv6969737, essv6698128, essv6790849, essv6915338, essv6794994, essv6778528, essv6927101, essv6957552, essv6855708, essv6881665, essv6957547, essv6841544, essv6974817, essv6911640, essv6927100, essv6694546, essv6746162, essv6927099, essv6767799, essv6873027, essv6734578, essv6723556, essv6778527, essv6857932, essv6786747, essv6865983, essv6786746, essv6935077, essv6943803, essv6904020, essv6975356, essv6763598, essv6757608, essv6723557, 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, C7orf61, CLDN15, CNPY4, COPS6, EPHB4, EPO, FBXO24, FIS1, GAL3ST4, GATS, GIGYF1, GNB2, GPC2, LAMTOR4, LRCH4, MBLAC1, MCM7, MEPCE, MIR106B, MIR25, MIR4653, MIR4658, MIR6840, MIR6875, MIR93, MOGAT3, MOSPD3, MUC12, MUC17, NAT16, NYAP1, PCOLCE, PCOLCE-AS1, PILRA, PILRB, PLOD3, PMS2P1, POP7, PPP1R35, PVRIG, PVRIG2P, SAP25, SERPINE1, SLC12A9, SPDYE3, SRRT, STAG3, STAG3L5P, STAG3L5P-PVRIG2P-PILRB, TAF6, TFR2, TRIM56, TRIP6, TSC22D4, UFSP1, VGF, ZAN, ZCWPW1, ZKSCAN1, ZNF3, ZNHIT1, ZSCAN21
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)esv2734888
Frequency
Sample Size96
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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