A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750135



Internal ID10331105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:100511559..100512006hg38UCSC Ensembl
Outerchr15:101051764..101052211hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803816, essv6966523, essv6960047, essv6824075, essv6940802, essv6831758, essv6862946, essv6678267, essv6709867, essv6867738, essv6691975, essv6792306, essv6796472, essv6702906, essv6776120, essv6690266, essv6809739, essv6673904, essv6857933, essv6812549, essv6953720, essv6888344, essv6728736, essv6788223, essv6706603, essv6842902, essv6851928, essv6891653, essv6900962, essv6688649, essv6732562, essv6924805, essv6724915, essv6681986, essv6828160, essv6928301, essv6885378, essv6839062, essv6685475, essv6945466, essv6895052, essv6696040, essv6897972, essv6800690, essv6971302, essv6721127, essv6749486, essv6882668, essv6909325, essv6820239, essv6874015, essv6779905, essv6784023, essv6911519, essv6713389, essv6699057, essv6815835, essv6916527, essv6741753, essv6869787, essv6949556, essv6920690, essv6936635, essv6932335, essv6835293, essv6665407, essv6806720
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM073, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM028, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM070, SSM095, SSM025, SSM034, SSM099, SSM098
Known GenesCERS3
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)esv2750135
Frequency
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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