A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714091



Internal ID10297727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23517158..23517534hg38UCSC Ensembl
Outerchr16:23528479..23528855hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6706641, essv6960120, essv6800738, essv6750023, essv6885395, essv6838253, essv6831789, essv6942962, essv6806751, essv6702951, essv6913076, essv6966581, essv6752921, essv6874034, essv6842944, essv6717286, essv6699078, essv6685498, essv6738237, essv6953772, essv6678309, essv6928331, essv6940846, essv6741976, essv6796522, essv6975339, essv6882687, essv6792348, essv6744362, essv6779941, essv6724949, essv6871096, essv6898003, essv6877061, essv6665479, essv6945512, essv6732609, essv6879831, essv6714031, essv6905371, essv6809759, essv6784072, essv6895086, essv6673962, essv6763688, essv6911674, essv6949590, essv6870142, essv6751153, essv6888374, essv6820279, essv6924846, essv6682015, essv6772568, essv6812573, essv6696083, essv6900994, essv6862994, essv6824113, essv6721163, essv6713418, essv6768878, essv6867781, essv6851997, essv6709895, essv6728764, essv6803847, essv6755945, essv6815864, essv6788263, essv6846338, essv6891682, essv6839113, essv6857989, essv6692003, essv6971346
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM007, SSM015, SSM078, SSM053, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM098, SSM056
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)esv2714091
Frequency
Sample Size96
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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