A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744588



Internal ID10325558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:61340173..61340616hg38UCSC Ensembl
Outerchr11:61107645..61108088hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6743935, essv6940203, essv6758143, essv6698675, essv6709399, essv6862247, essv6891167, essv6713043, essv6684979, essv6845866, essv6898242, essv6681464, essv6677697, essv6803406, essv6907829, essv6938041, essv6882236, essv6833976, essv6770854, essv6857019, essv6850992, essv6706105, essv6710377, essv6879401, essv6842319, essv6970669, essv6953098, essv6916022, essv6804698, essv6691497, essv6668142, essv6740961, essv6716674, essv6768408, essv6819555, essv6873580, essv6728225, essv6795913, essv6771947, essv6927827, essv6783455, essv6936002, essv6737812, essv6887920, essv6712882, essv6897572, essv6752482, essv6970274, essv6823528, essv6732013, essv6838514, essv6812135, essv6775595, essv6900556, essv6686532, essv6702324, essv6720577, essv6870644, essv6800089, essv6894551, essv6965599, essv6931711, essv6737453, essv6760878, essv6746749, essv6672964, essv6791744, essv6834778, essv6827594, essv6724390, essv6904800, essv6920029, essv6749588, essv6806283, essv6787647, essv6959082, essv6976943, essv6924214, essv6885003, essv6864797, essv6779339, essv6831195, essv6815360, essv6948963, essv6912475, essv6809275, essv6695431
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM028, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM012
Known GenesDAK
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)esv2744588
Frequency
Sample Size96
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer