A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718833



Internal ID9953125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53679948..53754119hg38UCSC Ensembl
Outerchr19:54183202..54257373hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3874172
hg1974172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946192, essv6832334, essv6792990, essv6883100, essv6801361, essv6883101, essv6954421, essv6839718, essv6666537, essv6782210, essv6967549, essv6812997, essv6895608, essv6832335, essv6814987, essv6694365, essv6874492, essv6729362, essv6788871, essv6898422, essv6814976, essv6766389, essv6699430, essv6682605, essv6877482, essv6852859, essv6746632, essv6780550, essv6917182, essv6835912, essv6971986, essv6814965, essv6707080, essv6839717, essv6898423, essv6667310, essv6782221, essv6913728, essv6692512, essv6713986, essv6928834, essv6721731, essv6917183, essv6877483, essv6933019, essv6689096, essv6835913, essv6674859, essv6744768, essv6744769, essv6868467, essv6961072, essv6921428, essv6874493
SamplesSSM036, SSM008, SSM083, SSM027, SSM046, SSM038, SSM009, SSM042, SSM023, SSM028, SSM092, SSM069, SSM029, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM031, SSM067, SSM044, SSM086, SSM033, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM076, SSM091, SSM070, SSM025, SSM004, SSM099, SSM098, SSM063
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
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)esv2718833
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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