A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2718799

Internal ID9953091
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52798412..52949518hg38UCSC Ensembl
Outerchr19:53301665..53452771hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717420, essv6901422, essv6909827, essv6877474, essv6888814, essv6888816, essv6801353, essv6713981, essv6666524, essv6788862, essv6921417, essv6933007, essv6692501, essv6746521, essv6810174, essv6753340, essv6814832, essv6682596, essv6843584, essv6915029, essv6835902, essv6721720, essv6692497, essv6892122, essv6807183, essv6696745, essv6764044, essv6843583, essv6852854, essv6921421, essv6971982, essv6839707, essv6917172, essv6725549, essv6877476, essv6744759, essv6746543, essv6666525, essv6892120, essv6814821, essv6950227, essv6917171, essv6773177, essv6747602, essv6925410, essv6710369, essv6812989, essv6733219, essv6950228, essv6788861, essv6925411, essv6832329, essv6839705, essv6824701, essv6801352, essv6871521, essv6689091, essv6820931, essv6694310, essv6954411, essv6892123, essv6885800, essv6814854, essv6812986, essv6917173, essv6868459, essv6917176, essv6835905, essv6784694, essv6812988, essv6807185, essv6685946, essv6820934, essv6744760, essv6747601, essv6895604, essv6863661, essv6948085, essv6696744, essv6699426, essv6785265, essv6721723, essv6874753, essv6756380, essv6792983, essv6797164, essv6937381, essv6874485, essv6928826, essv6694332, essv6721722, essv6758897, essv6832328, essv6746532, essv6905881, essv6913723, essv6689090, essv6769303, essv6928827, essv6692502, essv6741941, essv6941486, essv6824702, essv6843586, essv6782088, essv6804245, essv6753339, essv6717895, essv6905879, essv6773178, essv6885801, essv6678897, essv6707072, essv6909828, essv6954412, essv6717896, essv6950231, essv6883092, essv6766386, essv6843585, essv6674850, essv6874484, essv6933005, essv6816357, essv6871522, essv6746499, essv6750425, essv6756379, essv6744762, essv6824700, essv6717897, essv6764043, essv6863663, essv6913722, essv6776703, essv6828762, essv6828763, essv6782099, essv6858819, essv6839703, essv6898417, essv6707071, essv6738661, essv6928825, essv6729356, essv6839704
SamplesSSM065, SSM022, SSM007, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM024, SSM045, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM100, SSM056, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM079, SSM052, SSM068, SSM044, SSM074, SSM075, SSM015, SSM014, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesZNF28, ZNF320, ZNF321P, ZNF468, ZNF816, ZNF816-ZNF321P
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2718799
Sample Size96
Observed Gain0
Observed Loss83
Observed Complex0

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