A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726484



Internal ID10310120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195698963..195699559hg38UCSC Ensembl
Outerchr3:195425834..195426430hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6929809, essv6785745, essv6962658, essv6872248, essv6798189, essv6679836, essv6869232, essv6825730, essv6739428, essv6843709, essv6711259, essv6781595, essv6840634, essv6689875, essv6903156, essv6730278, essv6860047, essv6955741, essv6718796, essv6968683, essv6892919, essv6726507, essv6899162, essv6722664, essv6848140, essv6714919, essv6947191, essv6821836, essv6942620, essv6886490, essv6707870, essv6938367, essv6804961, essv6829622, essv6777582, essv6918137, essv6704444, essv6693536, essv6926276, essv6767037, essv6833214, essv6882664, essv6910731, essv6700390, essv6683419, essv6922685, essv6864809, essv6723987, essv6955928, essv6670083
SamplesSSM100, SSM036, SSM027, SSM024, SSM045, SSM046, SSM064, SSM079, SSM039, SSM013, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM028, SSM084, SSM090, SSM047, SSM069, SSM096, SSM026, SSM089, SSM017, SSM019, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM080, SSM037, SSM022, SSM091, SSM034, SSM004, SSM043, SSM052, SSM098, SSM012
Known GenesMIR570
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)esv2726484
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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