A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714425



Internal ID10298061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46409414..46415171hg38UCSC Ensembl
Outerchr16:46443326..46449083hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg385758
hg195758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932452, essv6867846, essv6750046, essv6674061, essv6928372, essv6949678, essv6678386, essv6966670, essv6838531, essv6852069, essv6699119, essv6792418, essv6784152, essv6812623, essv6696138, essv6665526, essv6895160, essv6909414, essv6809802, essv6843014, essv6788331, essv6839200, essv6768923, essv6901815, essv6882716, essv6835412, essv6776225, essv6891740, essv6913153, essv6742331, essv6665527, essv6688741, essv6725032, essv6953836, essv6706689, essv6806785, essv6901038, essv6828271, essv6940924, essv6895159, essv6779992, essv6713490, essv6852070, essv6960201, essv6936760, essv6753042, essv6674059, essv6971405, essv6945580, essv6920779, essv6879880, essv6682084, essv6728844, essv6975906, essv6831847, essv6975895, essv6800815, essv6916647, essv6776822, essv6867848, essv6772604
SamplesSSM100, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM065, SSM038, SSM097, SSM093, SSM074, SSM042, SSM023, SSM028, SSM084, SSM021, SSM069, SSM029, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM001, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM080, SSM037, SSM076, SSM022, SSM010, SSM070, SSM025, SSM004, SSM098, SSM056, SSM012
Known Genes
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)esv2714425
Frequency
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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