A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2745098

Internal ID9979382
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114554185..114561205hg38UCSC Ensembl
Outerchr11:114424907..114431927hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6706150, essv6688229, essv6879432, essv6716722, essv6834823, essv6912523, essv6815409, essv6838556, essv6737743, essv6924260, essv6940261, essv6737844, essv6795963, essv6702383, essv6791784, essv6771985, essv6920080, essv6970618, essv6724431, essv6775636, essv6677750, essv6857096, essv6845905, essv6944858, essv6885037, essv6908792, essv6904853, essv6673057, essv6900588, essv6735129, essv6873618, essv6681513, essv6743970, essv6800140, essv6898622, essv6831249, essv6862300, essv6720622, essv6812175, essv6760919, essv6819618, essv6668168, essv6685021, essv6712924, essv6931763, essv6834365, essv6959150, essv6970731, essv6977035, essv6783506, essv6768444, essv6908174, essv6949016, essv6882277, essv6787692, essv6749621, essv6763336, essv6823564, essv6805054, essv6806323, essv6695472, essv6709434, essv6809316, essv6765727, essv6865086, essv6870674, essv6746790, essv6771242, essv6965675, essv6803448, essv6752518, essv6916059, essv6851064, essv6686809, essv6779394, essv6716376, essv6758181, essv6927864, essv6894590, essv6876602, essv6897602, essv6710621, essv6887956, essv6891217, essv6938440, essv6953152, essv6755485, essv6732060, essv6867056, essv6936046, essv6698708, essv6842362, essv6827638, essv6728261, essv6691534, essv6741011
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesNXPE1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2745098
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0

Hosted by The Centre for Applied Genomics
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