A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744485



Internal ID9978769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:48902336..49894003hg38UCSC Ensembl
Outerchr11:48923888..49915555hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38991668
hg19991668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709389, essv6765694, essv6894542, essv6686399, essv6800076, essv6924205, essv6691481, essv6806271, essv6970185, essv6698668, essv6779323, essv6876555, essv6884992, essv6894541, essv6803392, essv6884990, essv6787636, essv6904791, essv6746735, essv6779322, essv6959066, essv6695420, essv6709388, essv6833887, essv6940193, essv6688181, essv6775587, essv6716666, essv6897562, essv6783438, essv6791727, essv6879393, essv6809269, essv6823512, essv6864697, essv6944778, essv6688180, essv6720567, essv6698669, essv6815349, essv6976926, essv6686421, essv6873570, essv6775588, essv6916010, essv6959067, essv6948945, essv6724372, essv6870625, essv6823514, essv6873569, essv6735094, essv6770742, essv6819546, essv6870627, essv6916009, essv6795900, essv6831189, essv6834763, essv6931698, essv6931699, essv6716664, essv6970657, essv6706096, essv6882226, essv6706095, essv6827581, essv6924208, essv6783441, essv6728214, essv6953087, essv6710288, essv6771938, essv6876553, essv6783439, essv6724374, essv6728213, essv6866979, essv6842310, essv6724378, essv6838503, essv6857003, essv6970658, essv6695419, essv6904788, essv6702312, essv6897560, essv6908733, essv6845853, essv6862230, essv6870628, essv6706097, essv6783440, essv6842308, essv6760871, essv6908735, essv6768401, essv6944779, essv6735095, essv6900542, essv6912462, essv6712873, essv6970174, essv6864709, essv6695422, essv6834764, essv6791730, essv6672949, essv6712487, essv6965581, essv6838502, essv6970656, essv6684964, essv6944780, essv6823509, essv6681452, essv6758133, essv6686410, essv6965582, essv6768399, essv6823511, essv6916008, essv6940192, essv6948944, essv6737364, essv6763305, essv6900541, essv6908734, essv6953086, essv6920021, essv6728212, essv6809268, essv6803393, essv6927813, essv6724375, essv6760869, essv6891153, essv6879394, essv6897561, essv6800075, essv6791729, essv6884991, essv6787637, essv6953085, essv6809267, essv6795901, essv6710277, essv6866977, essv6806272, essv6672946, essv6702311, essv6927812, essv6935990, essv6907751, essv6752473, essv6940194, essv6912464, essv6944781, essv6944783, essv6791728, essv6737807, essv6768400, essv6823515, essv6672947, essv6746736, essv6894540, essv6677683, essv6684966, essv6677684, essv6887907, essv6804599, essv6763304, essv6873568, essv6812125, essv6948946, essv6870630, essv6735096, essv6823513, essv6857005, essv6898131, essv6870629, essv6732002, essv6924206, essv6870626, essv6944782, essv6737806, essv6787635, essv6812124, essv6672948, essv6857004, essv6749579, essv6806270, essv6965580, essv6760870, essv6771939, essv6724373, essv6866978, essv6763306, essv6677682, essv6862229, essv6732001, essv6924209, essv6862232, essv6712872, essv6904789, essv6758134, essv6845852, essv6904790, essv6716663, essv6920020, essv6937952, essv6684967, essv6702313, essv6783437, essv6976927, essv6668138, essv6937963, essv6681453, essv6815348, essv6812123
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM082, 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, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM059, SSM081, SSM070, SSM080
Known GenesFOLH1, LOC440040, TRIM49B, TRIM64C
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)esv2744485
Frequency
Sample Size96
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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