A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714221



Internal ID10297857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32550874..32589039hg38UCSC Ensembl
Outerchr16:32562195..32600360hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3838166
hg1938166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812591, essv6714155, essv6924862, essv6905382, essv6835348, essv6728777, essv6824125, essv6752153, essv6975528, essv6692019, essv6776699, essv6682027, essv6920752, essv6755952, essv6815875, essv6742131, essv6820297, essv6888390, essv6735512, essv6975539, essv6913090, essv6784086, essv6717302, essv6945531, essv6882699, essv6858010, essv6895099, essv6901790, essv6702967, essv6867796, essv6879841, essv6800755, essv6839123, essv6943084, essv6668471, essv6665505, essv6909364, essv6838353, essv6867797, essv6831800, essv6724963, essv6772583, essv6971359, essv6742120, essv6932391, essv6744374, essv6758569, essv6953787, essv6709905, essv6788273, essv6738246, essv6898013, essv6888391, essv6713433, essv6706653, essv6852017, essv6936693, essv6761343, essv6916582, essv6678325, essv6846352, essv6732624, essv6673988, essv6966604, essv6940864, essv6874047, essv6732625, essv6828216, essv6871107, essv6696101, essv6750030, essv6792363, essv6874048, essv6877073
SamplesSSM059, SSM036, SSM008, SSM083, SSM027, SSM045, SSM046, SSM079, SSM065, SSM087, SSM039, SSM013, SSM093, SSM050, SSM042, SSM041, SSM023, SSM058, SSM028, SSM092, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM001, SSM014, SSM086, SSM033, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM025, SSM004, SSM099, SSM043, SSM098, SSM049, SSM056, SSM030, 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)esv2714221
Frequency
Sample Size96
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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