A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2718833

Internal ID9953125
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53679948..53754119hg38UCSC Ensembl
Outerchr19:54183202..54257373hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721731, essv6835912, essv6913728, essv6814965, essv6707080, essv6921428, essv6788871, essv6744768, essv6961072, essv6971986, essv6874493, essv6877483, essv6832334, essv6782210, essv6814987, essv6895608, essv6766389, essv6682605, essv6713986, essv6744769, essv6674859, essv6729362, essv6835913, essv6883101, essv6832335, essv6746632, essv6814976, essv6792990, essv6782221, essv6689096, essv6694365, essv6780550, essv6917182, essv6933019, essv6868467, essv6699430, essv6692512, essv6874492, essv6883100, essv6812997, essv6852859, essv6917183, essv6954421, essv6839717, essv6801361, essv6898423, essv6877482, essv6928834, essv6898422, essv6946192, essv6666537, essv6967549, essv6839718, essv6667310
SamplesSSM007, SSM027, SSM092, SSM053, SSM082, SSM086, SSM036, SSM091, SSM033, SSM099, SSM042, SSM040, SSM089, SSM031, SSM035, SSM025, SSM072, SSM020, SSM016, SSM067, SSM094, SSM083, SSM005, SSM017, SSM009, SSM028, SSM029, SSM069, SSM063, SSM038, SSM046, SSM019, SSM023, SSM044, SSM004, SSM015, SSM026, SSM008, SSM098, SSM076, SSM081, SSM070
Known GenesMIR1283-1, MIR515-1, MIR515-2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2718833
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0

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