A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744557



Internal ID9978841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58845738..59111232hg38UCSC Ensembl
Outerchr11:58613211..58878705hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38265495
hg19265495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv139e201
Supporting Variantsessv6866985, essv6812131, essv6900549, essv6850984, essv6677691, essv6763311, essv6749582, essv6706103, essv6771944, essv6927823, essv6944797, essv6845861, essv6907818, essv6965591, essv6864775, essv6908745, essv6944798, essv6755446, essv6800080, essv6845862, essv6870640, essv6864786, essv6737409, essv6686510, essv6779330, essv6870639, essv6857013, essv6763312, essv6834774, essv6970229, essv6838511, essv6702322, essv6948957, essv6850985, essv6900548, essv6795907, essv6716671, essv6850986, essv6862241, essv6866989, essv6795911, essv6795910, essv6698673, essv6887918, essv6953097, essv6720573, essv6706104, essv6940201, essv6737811, essv6976939, essv6866990, essv6866986, essv6787642, essv6907784, essv6827592, essv6720572, essv6779333, essv6763308, essv6752478, essv6882232, essv6749583, essv6831194, essv6804643, essv6728222, essv6870638, essv6800081, essv6907795, essv6732007, essv6866984, essv6916016, essv6857014, essv6710354, essv6758140, essv6900551, essv6672960, essv6763310, essv6702320, essv6862243, essv6873576, essv6765700, essv6937996, essv6970251, essv6834775, essv6672959, essv6944794, essv6931705, essv6746744, essv6728221, essv6795908, essv6765699, essv6803402, essv6770808, essv6927824, essv6898209, essv6728223, essv6698674, essv6970240, essv6898198, essv6791740, essv6732008, essv6716670, essv6779331, essv6709395, essv6787643, essv6882233, essv6924212, essv6749584, essv6976941, essv6870637, essv6912471, essv6831193, essv6765701, essv6833954, essv6743933, essv6691493, essv6920024, essv6904795, essv6833965, essv6976938, essv6920025, essv6873578, essv6760874, essv6897570, essv6681459, essv6953096, essv6712880, essv6712820, essv6770797, essv6944795, essv6737810, essv6898187, essv6688190, essv6800082, essv6783451, essv6873577, essv6819551, essv6900550, essv6681460, essv6965592, essv6894550, essv6908744, essv6897569, essv6710343, essv6677692, essv6735101, essv6938007, essv6712931, essv6931708, essv6916015, essv6876558, essv6827591, essv6740959
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM046, SSM011, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM050, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM092, SSM090, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesFAM111B, GLYATL1, LOC283194
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)esv2744557
Frequency
Sample Size96
Observed Gain0
Observed Loss79
Observed Complex0
Frequencyn/a


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