A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745663



Internal ID9979947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:26163318..26163653hg38UCSC Ensembl
Outerchr1:26489809..26490144hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6725858, essv6689274, essv6773448, essv6863970, essv6824993, essv6859204, essv6836200, essv6813180, essv6686162, essv6682839, essv6847038, essv6816821, essv6744948, essv6902551, essv6759059, essv6906108, essv6699604, essv6807383, essv6756562, essv6793306, essv6941799, essv6714258, essv6883263, essv6910061, essv6789167, essv6895855, essv6810346, essv6804411, essv6696999, essv6916841, essv6871728, essv6668973, essv6722017, essv6766560, essv6954764, essv6868723, essv6921739, essv6669343, essv6718173, essv6785005, essv6892330, essv6843965, essv6832609, essv6972368, essv6829024, essv6937693, essv6853255, essv6729637, essv6801627, essv6692783, essv6703872, essv6885991, essv6764173, essv6877674, essv6816597, essv6961577, essv6679184, essv6802376, essv6710602, essv6843902, essv6675212, essv6889016, essv6950577, essv6707278, essv6933321, essv6880426, essv6780886
SamplesSSM059, SSM036, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM064, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM003, SSM031, SSM044, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM082, SSM015, SSM078, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM098, SSM063
Known Genes
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)esv2745663
Frequency
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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