A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715202



Internal ID10298838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89745376..89745763hg38UCSC Ensembl
Outerchr16:89811784..89812171hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665682, essv6820380, essv6932543, essv6953905, essv6916719, essv6766114, essv6776291, essv6912229, essv6828324, essv6674169, essv6757264, essv6882781, essv6758623, essv6725107, essv6735567, essv6891781, essv6706758, essv6960314, essv6752990, essv6692114, essv6863111, essv6971486, essv6905488, essv6888498, essv6852162, essv6928457, essv6741576, essv6714621, essv6688791, essv6824246, essv6810866, essv6728900, essv6703090, essv6738303, essv6750079, essv6936847, essv6743055, essv6945648, essv6815981, essv6966789, essv6721304, essv6691321, essv6678447, essv6763756, essv6858149, essv6809853, essv6732766, essv6867915
SamplesSSM059, SSM036, SSM027, SSM075, SSM045, SSM046, SSM079, SSM087, SSM097, SSM039, SSM013, SSM009, SSM050, SSM088, SSM002, SSM057, SSM023, SSM028, SSM021, SSM047, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM031, SSM044, SSM001, SSM086, SSM066, SSM006, SSM040, SSM020, SSM007, SSM078, SSM016, SSM005, SSM080, SSM077, SSM025, SSM052, SSM049, SSM056, SSM063
Known GenesFANCA
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)esv2715202
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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