A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714193



Internal ID9948477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:31315980..31316242hg38UCSC Ensembl
Outerchr16:31327301..31327563hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6796530, essv6706648, essv6885403, essv6696092, essv6776168, essv6920746, essv6678316, essv6949603, essv6792358, essv6928339, essv6932386, essv6913083, essv6815869, essv6803857, essv6858001, essv6924856, essv6768888, essv6863004, essv6842951, essv6898007, essv6835340, essv6692012, essv6975439, essv6820291, essv6901001, essv6742065, essv6874039, essv6940856, essv6953782, essv6945521, essv6824121, essv6809765, essv6871102, essv6891688, essv6852012, essv6916576, essv6895093, essv6812582, essv6747196, essv6966597, essv6960136, essv6800746, essv6846347, essv6870198, essv6888383, essv6713427, essv6806757, essv6724959, essv6905377, essv6699086, essv6732617, essv6828206, essv6702959, essv6665499, essv6901784, essv6717296, essv6721168
SamplesSSM022, SSM007, SSM027, SSM013, SSM082, SSM086, SSM036, SSM055, SSM091, SSM084, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM090, SSM064, SSM025, SSM072, SSM020, SSM071, SSM016, SSM032, SSM039, SSM024, SSM045, SSM097, SSM077, SSM012, SSM100, SSM085, SSM017, SSM011, SSM066, SSM029, SSM095, SSM047, SSM073, SSM037, SSM087, SSM038, SSM019, SSM096, SSM023, SSM079, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM098, SSM018, SSM076, SSM070, SSM080
Known GenesITGAM
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)esv2714193
Frequency
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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