A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723082



Internal ID10306718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10792132..10800301hg38UCSC Ensembl
Outerchr21:10712156..10720325hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg388170
hg198170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv686e201
Supporting Variantsessv6961298, essv6692625, essv6788994, essv6946334, essv6875753, essv6729483, essv6961295, essv6961301, essv6689162, essv6888902, essv6961297, essv6967733, essv6937530, essv6816468, essv6686058, essv6725702, essv6721855, essv6832450, essv6729482, essv6863807, essv6868609, essv6804318, essv6883172, essv6853045, essv6824829, essv6925560, essv6710480, essv6714105, essv6773324, essv6902405, essv6967731, essv6824828, essv6961300, essv6721853, essv6946333, essv6892206, essv6828875, essv6824831, essv6868608, essv6895737, essv6917290, essv6807277, essv6710481, essv6721856, essv6810253, essv6821052, essv6863812, essv6859017, essv6733373, essv6967732
SamplesSSM036, SSM027, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM097, SSM073, SSM074, SSM042, SSM088, SSM041, SSM023, SSM021, SSM047, SSM018, SSM069, SSM096, SSM026, SSM089, SSM035, SSM094, SSM044, SSM086, SSM081, SSM078, SSM016, SSM080, SSM077, SSM034, SSM098, 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)esv2723082
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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