A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714828



Internal ID10298464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:84478872..84480027hg38UCSC Ensembl
Outerchr16:84512478..84513633hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381156
hg191156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6820355, essv6888478, essv6966743, essv6858102, essv6763740, essv6744409, essv6714499, essv6741558, essv6901854, essv6682128, essv6936804, essv6752969, essv6755820, essv6665628, essv6913193, essv6699147, essv6717389, essv6772662, essv6776261, essv6953869, essv6871178, essv6943695, essv6920819, essv6891764, essv6932510, essv6928437, essv6949714, essv6976162, essv6792464, essv6831881
SamplesSSM027, SSM024, SSM065, SSM087, SSM038, SSM097, SSM057, SSM090, SSM021, SSM029, SSM096, SSM062, SSM017, SSM019, SSM003, SSM001, SSM033, SSM066, SSM006, SSM081, SSM020, SSM015, SSM078, SSM053, SSM070, SSM025, SSM004, SSM043, SSM052, SSM012
Known GenesTLDC1
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)esv2714828
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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