A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714121



Internal ID9948405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:25054771..25126057hg38UCSC Ensembl
Outerchr16:25066092..25137378hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3871287
hg1971287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6924849, essv6724951, essv6867784, essv6870176, essv6871099, essv6752923, essv6839114, essv6738241, essv6966587, essv6874035, essv6792352, essv6960124, essv6895089, essv6685502, essv6744366, essv6975373, essv6945515, essv6668466, essv6688676, essv6831792, essv6803849, essv6752924, essv6898004, essv6953776, essv6809762, essv6975361, essv6682017, essv6713423, essv6699082, essv6871100, essv6920735, essv6949594, essv6702956, essv6806755, essv6741508, essv6842948, essv6744364, essv6971349, essv6747191, essv6913078, essv6901780, essv6741998, essv6838287, essv6768881, essv6820283, essv6812575, essv6717290, essv6779945, essv6879834, essv6867783, essv6800741, essv6806753, essv6905372, essv6877064, essv6862999, essv6747192, essv6966588, essv6942995, essv6751375, essv6857992, essv6828202, essv6755948, essv6776163, essv6738240, essv6820282, essv6835336, essv6882689, essv6690499, essv6898005, essv6900996, essv6879835, essv6932378, essv6846343, essv6696086, essv6916566, essv6942984, essv6920734, essv6761337, essv6846341, essv6741510, essv6911685, essv6852001, essv6936676, essv6776611, essv6885397, essv6870165, essv6709897, essv6809761, essv6824116, essv6928334, essv6796524, essv6874036, essv6728767, essv6673968, essv6940850, essv6692006, essv6768882, essv6779946, essv6810066, essv6900997, essv6742009, essv6960125, essv6673969, essv6665484, essv6784075, essv6831793, essv6766055, essv6810055, essv6721165, essv6885396, essv6877063, essv6665485, essv6735503, essv6706644, essv6838276, essv6750025, essv6803848, essv6891684, essv6888378, essv6815867, essv6953775, essv6758563, essv6788267, essv6732612, essv6750024, essv6678312, essv6714054, essv6763689
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesLCMT1
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)esv2714121
Frequency
Sample Size96
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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