A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718603



Internal ID9952895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43037702..43280849hg38UCSC Ensembl
Outerchr19:43541854..43785001hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38243148
hg19243148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839681, essv6717871, essv6898403, essv6753325, essv6710355, essv6674826, essv6792958, essv6824681, essv6746364, essv6967514, essv6902268, essv6874472, essv6828745, essv6667132, essv6898401, essv6750410, essv6717869, essv6925386, essv6773159, essv6696726, essv6744744, essv6717867, essv6717873, essv6699414, essv6928811, essv6797144, essv6666494, essv6909809, essv6814654, essv6921394, essv6758888, essv6868440, essv6868441, essv6707051, essv6895588, essv6750408, essv6781832, essv6725535, essv6733200, essv6925384, essv6846753, essv6917158, essv6925383, essv6846749, essv6668742, essv6692480, essv6843564, essv6921393, essv6717872, essv6868438, essv6928809, essv6814643, essv6744742, essv6914896, essv6810163, essv6917147, essv6807169, essv6773160, essv6692479, essv6971960, essv6898402, essv6921392, essv6888807, essv6839679, essv6769292, essv6694254, essv6696727, essv6667099, essv6769293, essv6941461, essv6738644, essv6950211, essv6871508, essv6804230, essv6947917, essv6839678, essv6883080, essv6816340, essv6753324, essv6839680, essv6784042, essv6954387, essv6895589, essv6914885, essv6905862, essv6725534, essv6746353, essv6756356, essv6901414, essv6717265, essv6967515, essv6928810, essv6917157, essv6874471, essv6810162, essv6877461, essv6971961, essv6928812, essv6971959, essv6892108, essv6841943, essv6741922, essv6713964, essv6696725, essv6781821, essv6913706, essv6874470
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM064, SSM079, SSM065, SSM038, SSM097, SSM013, SSM009, SSM073, SSM050, SSM074, SSM042, SSM002, SSM041, SSM057, SSM058, SSM028, SSM092, SSM084, SSM090, SSM047, SSM018, SSM029, SSM096, SSM089, SSM017, SSM019, SSM094, SSM003, SSM031, SSM001, SSM014, SSM006, SSM085, SSM040, SSM007, SSM015, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM022, SSM010, SSM091, SSM070, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM012
Known GenesLOC284344, PSG2, PSG4, PSG5, PSG9
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)esv2718603
Frequency
Sample Size96
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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