A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714347



Internal ID10297983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46386904..46393809hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg196906
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv351e201
Supporting Variantsessv6913125, essv6815904, essv6674018, essv6960172, essv6831830, essv6953816, essv6971398, essv6852045, essv6732657, essv6784125, essv6721229, essv6949632, essv6960171, essv6842972, essv6709937, essv6702997, essv6936719, essv6842976, essv6940900, essv6784110, essv6772611, essv6824164, essv6692041, essv6809783, essv6843009, essv6696130, essv6828256, essv6721203, essv6932431, essv6717322, essv6692042, essv6706670, essv6863028, essv6728794, essv6916603, essv6949633, essv6835385, essv6966631, essv6932420, essv6713467, essv6788297, essv6696123, essv6824144, essv6772610, essv6702992, essv6901806, essv6913144, essv6858039, essv6928367, essv6665529, essv6815892, essv6800807, essv6696122, essv6688706, essv6891713, essv6966630, essv6949639, essv6772625, essv6678361, essv6812607, essv6943306, essv6971386, essv6784147, essv6784128, essv6835369, essv6815893, essv6665534, essv6913122, essv6966645, essv6928365, essv6776192, essv6725003, essv6858038, essv6706669, essv6928364, essv6779972, essv6870509, essv6895129, essv6721204, essv6696135, essv6971384, essv6709949, essv6888411, essv6928366, essv6879858, essv6788300, essv6796580, essv6682051, essv6824147, essv6835379, essv6800785, essv6788301, essv6806775, essv6858040, essv6905405, essv6867822, essv6732659, essv6721205, essv6796595, essv6732660, essv6895128, essv6674014, essv6966640, essv6768914, essv6966638, essv6828235, essv6824138, essv6895130, essv6835383, essv6690710, essv6692040, essv6706672, essv6901017, essv6713457, essv6905420, essv6888407, essv6702993, essv6843007, essv6682050, essv6800786, essv6835370, essv6966643, essv6940888, essv6682049, essv6796562, essv6776190, essv6815891, essv6792386, essv6690721, essv6800808, essv6870542, essv6699112, essv6932432, essv6831822, essv6674015, essv6905409, essv6901018, essv6796561, essv6975718, essv6932419, essv6858044, essv6678351, essv6732649, essv6895116, essv6665539, essv6678352, essv6842977, essv6949636, essv6888406, essv6909394, essv6678356, essv6824145, essv6839174, essv6738254, essv6682052, essv6713466, essv6728795, essv6788303, essv6916610, essv6717319, essv6717321, essv6788292, essv6728812, essv6839143, essv6792387, essv6768908, essv6824143, essv6874065, essv6882712, essv6724990, essv6776189, essv6784111, essv6776194, essv6940889, essv6839145, essv6835381, essv6772605, essv6724986, essv6909393, essv6949637, essv6812608, essv6945555, essv6824141, essv6709930, essv6839144, essv6888413, essv6839148, essv6725001, essv6870520, essv6763715, essv6885424, essv6843006, essv6742442, essv6842990, essv6936714, essv6916604, essv6888412, essv6824137, essv6895117, essv6885434, essv6717326, essv6721230, essv6682063, essv6971383, essv6960183, essv6936721, essv6839146, essv6916638, essv6792397, essv6682048, essv6784112, essv6688704, essv6913123, essv6916605, essv6940902, essv6803879, essv6828236, essv6940890, essv6920766, essv6792398, essv6871125, essv6895118, essv6867819, essv6685531, essv6685530, essv6960170, essv6945556, essv6696118, essv6966629, essv6888405, essv6815905, essv6665530, essv6788296, essv6913113, essv6796560, essv6898025, essv6685540, essv6936713, essv6839178, essv6685533, essv6685527, essv6724988, essv6842970, essv6699107, essv6936720, essv6835371, essv6732674, essv6966627, essv6953815, essv6916609, essv6891712, essv6724989, essv6788293, essv6784124, essv6852044, essv6839147, essv6779964, essv6913124, essv6792385, essv6776188, essv6913126
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM041, SSM023, SSM028, SSM084, SSM090, SSM021, SSM047, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM098, SSM012
Known Genes
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)esv2714347
Frequency
Sample Size96
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer