A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718724



Internal ID9953016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49874328..49875785hg38UCSC Ensembl
Outerchr19:50377585..50379042hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381458
hg191458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967531, essv6946173, essv6937372, essv6925399, essv6824689, essv6666509, essv6694277, essv6733208, essv6746432, essv6682591, essv6780535, essv6744751, essv6832323, essv6741929, essv6839689, essv6747595, essv6678890, essv6816348, essv6784685, essv6814765, essv6932994, essv6807173, essv6769300, essv6797152, essv6902280, essv6913717, essv6792972, essv6725540, essv6804236, essv6703582, essv6846760, essv6883083, essv6921406, essv6947996, essv6858811, essv6901416, essv6750419, essv6863647, essv6773169, essv6710360, essv6877469, essv6928816, essv6696734, essv6954399, essv6699419, essv6828753, essv6674836, essv6885794, essv6941469, essv6781977, essv6961052, essv6898411, essv6874479, essv6713973, essv6895595, essv6707059, essv6971975, essv6880249, essv6950222, essv6788852
SamplesSSM065, SSM022, SSM007, SSM027, SSM092, SSM053, SSM055, SSM091, SSM033, SSM099, SSM042, SSM040, SSM088, SSM064, SSM031, SSM025, SSM020, SSM071, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM037, SSM087, SSM038, SSM019, SSM023, SSM079, SSM052, SSM068, SSM074, SSM015, SSM026, SSM008, SSM098, SSM018, SSM081, SSM070, SSM080
Known GenesAKT1S1
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)esv2718724
Frequency
Sample Size96
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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