A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714395



Internal ID10298031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46383532..46392958hg38UCSC Ensembl
Outerchr16:46417444..46426870hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg389427
hg199427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv364e201
Supporting Variantsessv6690966, essv6882715, essv6766075, essv6800812, essv6688736, essv6895152, essv6752940, essv6839194, essv6943284, essv6721246, essv6909416, essv6665546, essv6895149, essv6971409, essv6732673, essv6779989, essv6901811, essv6747212, essv6940936, essv6858052, essv6713483, essv6874059, essv6863044, essv6852067, essv6796604, essv6744391, essv6750044, essv6831817, essv6871150, essv6870808, essv6888439, essv6936764, essv6870797, essv6713478, essv6758576, essv6852064, essv6895150, essv6803890, essv6806781, essv6784162, essv6768917, essv6867838, essv6913158, essv6772624, essv6960210, essv6735522, essv6831840, essv6824186, essv6867839, essv6779986, essv6788333, essv6882719, essv6800813, essv6891733, essv6870821, essv6846368, essv6932461, essv6871140, essv6924881, essv6699117, essv6665547, essv6839192, essv6898032, essv6809800, essv6812618, essv6828270, essv6852066, essv6877089, essv6891734, essv6755962, essv6766077, essv6696121, essv6758577, essv6728841, essv6728842, essv6858037, essv6709948, essv6879866, essv6744390, essv6885439, essv6779987, essv6852062, essv6784161, essv6761351, essv6905430, essv6928375, essv6867840, essv6971410, essv6714243, essv6674062, essv6800819, essv6913148, essv6809801, essv6752939, essv6838542, essv6916637, essv6763716, essv6820312, essv6945550, essv6738258, essv6911885, essv6685558, essv6703026, essv6776199, essv6741529, essv6742342, essv6717349
SamplesSSM059, SSM083, SSM071, SSM075, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM035, SSM094, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM076, SSM022, SSM010, SSM091, SSM055, SSM095, SSM034, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063, 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)esv2714395
Frequency
Sample Size96
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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