A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718725



Internal ID9953017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49875037..49875616hg38UCSC Ensembl
Outerchr19:50378294..50378873hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967531, essv6946173, essv6937372, essv6925399, essv6824689, essv6733208, essv6746432, essv6682591, essv6780535, essv6832323, essv6678890, essv6839689, essv6747595, essv6816348, essv6784685, essv6814765, essv6932994, essv6807173, essv6769300, essv6797152, essv6902280, essv6913717, essv6792972, essv6725540, essv6804236, essv6703582, essv6883083, essv6846760, essv6947996, essv6921406, essv6858811, essv6901416, essv6750419, essv6863647, essv6773169, essv6710360, essv6877469, essv6928816, essv6696734, essv6954399, essv6699419, essv6828753, essv6674836, essv6885794, essv6781977, essv6941469, essv6961052, essv6753333, essv6898411, essv6874479, essv6713973, essv6895595, essv6707059, essv6971975, essv6880249, essv6950222, essv6788852
SamplesSSM065, SSM022, SSM007, SSM027, SSM092, SSM055, SSM091, SSM033, SSM099, SSM042, SSM040, SSM088, SSM064, SSM031, SSM025, SSM020, SSM071, SSM057, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM041, SSM077, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM028, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM037, SSM087, SSM038, SSM019, SSM023, SSM079, 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)esv2718725
Frequency
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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