A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744100



Internal ID10325070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:10271144..10272302hg38UCSC Ensembl
Outerchr11:10292691..10293849hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381159
hg191159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958990, essv6965496, essv6746696, essv6806238, essv6795858, essv6976835, essv6677640, essv6940144, essv6887867, essv6737757, essv6904748, essv6827526, essv6791678, essv6812086, essv6743899, essv6970614, essv6912423, essv6752438, essv6779282, essv6710010, essv6894494, essv6927776, essv6702253, essv6668109, essv6698630, essv6879356, essv6735067, essv6749545, essv6897516, essv6935939, essv6882183, essv6803356, essv6908675, essv6831137, essv6823457, essv6775556, essv6737043, essv6724328, essv6862170, essv6876520, essv6720524, essv6672871, essv6937507, essv6706056, essv6891106, essv6900501, essv6838455, essv6845818, essv6709344, essv6765667, essv6907418, essv6866908, essv6731953, essv6856926, essv6800025, essv6870584, essv6953046, essv6944716, essv6783391
SamplesSSM100, SSM083, SSM071, SSM027, SSM045, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM050, SSM074, SSM088, SSM002, SSM041, SSM057, SSM023, SSM028, SSM092, SSM090, SSM021, SSM047, SSM029, SSM096, SSM026, SSM089, SSM019, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM007, SSM015, SSM053, SSM080, SSM076, SSM022, SSM055, SSM070, SSM025, SSM099, SSM098, SSM049, SSM056, SSM030, SSM063
Known GenesSBF2
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)esv2744100
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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