A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749814



Internal ID10330784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:68133660..68136605hg38UCSC Ensembl
Outerchr15:68425998..68428943hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg382946
hg192946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775897, essv6678241, essv6783989, essv6699039, essv6691951, essv6831726, essv6761277, essv6966465, essv6862902, essv6768823, essv6665329, essv6688620, essv6779872, essv6911363, essv6842874, essv6912999, essv6905299, essv6747151, essv6959981, essv6706579, essv6812526, essv6766016, essv6809464, essv6924765, essv6717212, essv6949526, essv6772494, essv6749983, essv6735453, essv6744317, essv6942429, essv6752862, essv6728705, essv6891630, essv6721095, essv6713361, essv6839034, essv6895029, essv6953683, essv6876997, essv6882647, essv6867693, essv6755888, essv6888314, essv6932300, essv6851873, essv6974740, essv6885357, essv6971272, essv6824045, essv6803793, essv6846274, essv6702870, essv6747487, essv6709840, essv6681960, essv6685447, essv6940770, essv6837809, essv6936599, essv6815813, essv6806697, essv6879784, essv6871051, essv6796444, essv6901714, essv6945427, essv6857871, essv6869464, essv6897950, essv6788186, essv6690066, essv6673847, essv6809713, essv6738197, essv6920650, essv6758516, essv6696005, essv6928280, essv6828123, essv6800650, essv6873989, essv6909283, essv6776084, essv6724888, essv6916504, essv6900938, essv6835269, essv6741520, essv6732533, essv6763650, essv6792278, essv6668424, essv6741438, essv6820201, essv6713599
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, 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, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesPIAS1
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)esv2749814
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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