Variant Details

Variant: esv2734888

Internal ID

9969218

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr7:99975623..101290285	hg38	UCSC Ensembl
Outer	chr7:99573246..100933566	hg19	UCSC Ensembl

Cytoband

7q22.1

Allele length

Assembly	Allele length
hg38	1314663
hg19	1360321

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6737203, essv6727446, essv6911642, essv6715838, essv6778526, essv6805700, essv6712147, essv6952241, essv6927102, essv6975039, essv6975354, essv6890587, essv6790849, essv6705330, essv6899953, essv6701434, essv6890576, essv6865981, essv6849647, essv6684280, essv6890482, essv6873026, essv6687524, essv6818605, essv6705698, essv6907909, essv6763609, essv6887271, essv6911638, essv6857943, essv6845215, essv6837749, essv6805701, essv6740270, essv6943801, essv6930796, essv6969737, essv6935079, essv6964245, essv6890565, essv6715835, essv6786746, essv6884474, essv6822739, essv6969735, essv6802808, essv6740269, essv6705710, essv6904019, essv6694547, essv6919184, essv6754799, essv6705676, essv6902430, essv6893833, essv6899954, essv6919188, essv6734577, essv6731043, essv6684279, essv6786747, essv6927099, essv6907911, essv6701435, essv6893831, essv6786745, essv6969734, essv6790851, essv6676892, essv6837750, essv6808671, essv6943802, essv6923381, essv6680705, essv6822738, essv6778527, essv6731076, essv6927101, essv6701433, essv6927100, essv6881663, essv6948138, essv6757608, essv6830478, essv6705327, essv6705687, essv6957550, essv6865984, essv6719751, essv6931440, essv6708700, essv6855707, essv6834086, essv6808670, essv6811563, essv6899956, essv6737202, essv6957547, essv6762821, essv6969736, essv6708699, essv6694545, essv6687525, essv6952240, essv6919187, essv6849648, essv6904016, essv6771125, essv6731065, essv6873028, essv6748975, essv6671616, essv6890484, essv6878853, essv6802811, essv6737205, essv6782524, essv6767801, essv6760277, essv6870030, essv6861266, essv6680704, essv6828287, essv6975356, essv6963929, essv6748974, essv6911639, essv6767800, essv6931462, essv6881665, essv6763598, essv6919186, essv6915338, essv6849651, essv6957552, essv6837751, essv6751847, essv6841545, essv6786744, essv6748973, essv6798309, essv6828309, essv6684278, essv6865978, essv6904017, essv6855711, essv6870032, essv6893830, essv6902463, essv6952236, essv6890483, essv6746163, essv6935078, essv6822740, essv6957549, essv6849646, essv6834088, essv6964249, essv6964246, essv6911640, essv6845214, essv6814617, essv6943803, essv6930798, essv6765209, essv6915341, essv6774866, essv6698127, essv6782523, essv6762823, essv6767799, essv6931429, essv6887270, essv6763586, essv6771127, essv6865982, essv6841544, essv6671615, essv6857932, essv6811564, essv6705328, essv6841543, essv6790852, essv6740268, essv6975353, essv6715834, essv6904020, essv6849649, essv6830480, essv6705329, essv6896991, essv6743384, essv6890486, essv6762822, essv6963940, essv6762818, essv6743382, essv6963917, essv6818606, essv6855708, essv6952238, essv6865980, essv6907910, essv6878852, essv6830479, essv6969738, essv6964247, essv6855713, essv6923379, essv6873027, essv6715837, essv6690760, essv6790853, essv6715833, essv6849650, essv6798298, essv6762824, essv6975355, essv6974817, essv6743381, essv6939355, essv6890485, essv6893829, essv6723556, essv6930797, essv6799206, essv6861263, essv6734578, essv6841546, essv6902474, essv6681210, essv6743383, essv6802807, essv6948139, essv6841547, essv6763575, essv6771126, essv6814618, essv6919183, essv6731196, essv6939354, essv6799205, essv6902452, essv6845213, essv6923380, essv6948137, essv6948135, essv6794995, essv6865979, essv6778528, essv6948136, essv6865983, essv6798320, essv6765210, essv6754800, essv6963951, essv6875979, essv6731195, essv6727447, essv6723557, essv6875978, essv6731054, essv6931451, essv6748977, essv6694546, essv6935077, essv6790850, essv6723555, essv6794994, essv6774865, essv6751846, essv6957548, essv6939356, essv6698128, essv6927103, essv6964248, essv6746162, essv6902441, essv6974928, essv6828298, essv6878855, essv6680703, essv6757607, essv6737204, essv6712148, essv6705331, essv6799207, essv6774863, essv6957553, essv6915339, essv6680702, essv6715836, essv6943804, essv6855712, essv6974706, essv6841548, essv6957546, essv6963962, essv6802810, essv6952237

Samples

SSM100, 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, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063, SSM012

Known Genes

ACHE, 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

Method

Sequencing

Analysis

Breakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads

Platform

Illumina HiSeq 2000

Comments

Reference

Wong_et_al_2012b

Pubmed ID

23290073

Accession Number(s)

esv2734888

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	94
Observed Complex	0
Frequency	n/a