A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718823



Internal ID9953115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53430826..53475136hg38UCSC Ensembl
Outerchr19:53934079..53978390hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3844311
hg1944312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877481, essv6868465, essv6842154, essv6928832, essv6776707, essv6735848, essv6883097, essv6954416, essv6839716, essv6710372, essv6746621, essv6814909, essv6933016, essv6933011, essv6828771, essv6746610, essv6707078, essv6937384, essv6678904, essv6902293, essv6816362, essv6810179, essv6713985, essv6925416, essv6843592, essv6707079, essv6839714, essv6948140, essv6816363, essv6883099, essv6905884, essv6812995, essv6954419, essv6682604, essv6877480, essv6846773, essv6741944, essv6961071, essv6846772, essv6782188, essv6858826, essv6902294, essv6807190, essv6901428, essv6858828, essv6788869, essv6780549, essv6721729, essv6814920, essv6812996, essv6780548, essv6729357, essv6668761, essv6905887, essv6880258, essv6950235, essv6682603, essv6946191, essv6814932, essv6729361, essv6933013, essv6898421, essv6769307, essv6921427, essv6744766, essv6692509, essv6773184, essv6883096, essv6733225, essv6721730, essv6696751, essv6761699, essv6843594, essv6948129, essv6874490, essv6946190, essv6814943, essv6874491, essv6785709, essv6710373, essv6895606, essv6846774, essv6871527, essv6874808, essv6954420, essv6674857, essv6782177, essv6807191, essv6915096, essv6846771, essv6824705, essv6801359, essv6913727, essv6885804, essv6933015, essv6863669, essv6741945, essv6901427, essv6733226, essv6941489, essv6678903, essv6674856, essv6933014, essv6733227, essv6689095, essv6925417, essv6874820, essv6756382, essv6692511, essv6842187, essv6967547, essv6941490, essv6785820, essv6852857, essv6707077, essv6971985, essv6828770, essv6905889, essv6852858, essv6753345, essv6835910, essv6948152, essv6842176, essv6788868, essv6685949, essv6814898, essv6961069, essv6843593, essv6703593, essv6950234, essv6824706, essv6941488, essv6814954, essv6801360, essv6756383, essv6835903, essv6782166, essv6784697, essv6692508, essv6666535, essv6785598, essv6895607, essv6747607, essv6696749, essv6696750, essv6785931, essv6666532, essv6839715, essv6961070, essv6950236, essv6761698, essv6905888, essv6868466, essv6871526, essv6725552, essv6797170, essv6674858
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM039, SSM013, SSM009, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM095, SSM025, SSM034, SSM099, SSM052, SSM098, SSM049, SSM030, SSM012
Known GenesTPM3P9, ZNF761, ZNF813
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)esv2718823
Frequency
Sample Size96
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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