A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719795



Internal ID10303431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:176509065..176509648hg38UCSC Ensembl
Outerchr1:176478201..176478784hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38584
hg19584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871815, essv6864121, essv6804515, essv6961759, essv6954952, essv6703959, essv6753614, essv6817776, essv6749743, essv6801725, essv6968072, essv6929201, essv6666975, essv6941931, essv6895950, essv6816750, essv6809821, essv6898718, essv6917806, essv6675327, essv6697080, essv6951329, essv6847227, essv6719809, essv6933434, essv6917567, essv6906234, essv6742254, essv6793431, essv6686257, essv6877759, essv6785798, essv6710708, essv6807484, essv6750710, essv6937808, essv6665265, essv6773566, essv6766651, essv6813276, essv6972588, essv6889130, essv6722114, essv6785123, essv6777057, essv6853434, essv6669159, essv6714371, essv6880529, essv6733585, essv6745047, essv6859346, essv6679301, essv6877876, essv6692907, essv6836305, essv6756649, essv6925809, essv6670232, essv6910179, essv6883346, essv6946614, essv6797583, essv6789283, essv6950685, essv6902657, essv6761936, essv6707362, essv6845031, essv6759163, essv6914101, essv6747893, essv6921869, essv6729747, essv6810440, essv6736082, essv6843993, essv6840092, essv6696654, essv6718278, essv6874813, essv6781008, essv6764260, essv6699736, essv6689370, essv6725983, essv6868817, essv6738930
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM040, SSM072, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesPAPPA2
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)esv2719795
Frequency
Sample Size96
Observed Gain0
Observed Loss88
Observed Complex0
Frequencyn/a


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