A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714426



Internal ID10298062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46410025..46420801hg38UCSC Ensembl
Outerchr16:46443937..46454713hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3810777
hg1910777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867846, essv6674061, essv6949678, essv6838531, essv6690955, essv6901041, essv6885441, essv6960202, essv6936761, essv6706691, essv6784157, essv6882717, essv6678387, essv6815929, essv6863046, essv6895160, essv6665528, essv6863052, essv6696137, essv6828267, essv6882722, essv6768922, essv6839202, essv6871139, essv6674050, essv6905432, essv6863045, essv6895158, essv6824182, essv6901816, essv6732693, essv6728840, essv6945581, essv6909425, essv6742331, essv6960204, essv6824181, essv6940930, essv6692068, essv6852071, essv6812622, essv6966671, essv6784156, essv6779992, essv6721239, essv6852070, essv6920775, essv6916645, essv6867847, essv6839199, essv6753042, essv6895161, essv6901820, essv6916648, essv6688742, essv6920779, essv6788330, essv6732692, essv6949679, essv6820308, essv6803891, essv6888441, essv6975895, essv6870898, essv6895156, essv6682083, essv6776822, essv6772604, essv6706690, essv6674060
SamplesSSM100, SSM036, SSM008, SSM083, SSM027, SSM024, SSM046, SSM011, SSM064, SSM079, SSM065, SSM013, SSM073, SSM088, SSM023, SSM090, SSM021, SSM047, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM068, SSM040, SSM007, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM095, SSM004, SSM098, 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)esv2714426
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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