A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2718804

Internal ID9953096
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52857951..52943030hg38UCSC Ensembl
Outerchr19:53361204..53446283hg19UCSC 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, essv6888816, essv6801353, essv6713981, essv6666524, essv6788862, essv6921417, essv6933007, essv6753340, essv6682596, essv6915029, essv6835902, essv6892122, essv6696745, essv6764044, essv6852854, essv6921421, essv6971982, essv6839707, essv6877476, essv6746543, essv6666525, essv6892120, essv6747602, essv6710369, essv6812989, essv6733219, essv6788861, essv6925411, essv6839705, essv6801352, essv6871521, essv6689091, essv6694310, essv6892123, essv6814854, essv6917173, essv6868459, essv6784694, essv6812988, essv6807185, essv6685946, essv6820934, essv6744760, essv6895604, essv6948085, essv6699426, essv6785265, essv6721723, essv6756380, essv6792983, essv6797164, essv6937381, essv6874485, essv6928826, essv6694332, essv6721722, essv6758897, essv6832328, essv6746532, essv6905881, essv6913723, essv6689090, essv6928827, essv6692502, essv6741941, essv6941486, essv6824702, essv6843586, essv6804245, essv6773178, essv6885801, essv6678897, essv6707072, essv6909828, essv6950231, essv6674850, essv6874484, essv6816357, essv6871522, essv6750425, essv6756379, essv6717897, essv6863663, essv6776703, essv6828763, essv6782099, essv6858819, essv6898417, essv6738661, essv6729356
SamplesSSM065, SSM022, SSM007, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM031, SSM035, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM024, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM100, SSM056, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM087, SSM038, SSM046, SSM019, SSM096, SSM079, SSM052, SSM068, SSM044, SSM074, SSM015, SSM014, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesZNF320, ZNF321P, 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)esv2718804
Sample Size96
Observed Gain0
Observed Loss76
Observed Complex0

Hosted by The Centre for Applied Genomics
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