A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726099



Internal ID10309735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:158399095..158399451hg38UCSC Ensembl
Outerchr3:158116884..158117240hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968635, essv6804928, essv6686678, essv6675839, essv6929753, essv6878123, essv6942554, essv6817358, essv6673743, essv6730226, essv6882276, essv6825684, essv6793975, essv6781545, essv6829590, essv6973576, essv6899119, essv6889571, essv6880902, essv6714871, essv6859979, essv6903111, essv6955864, essv6821790, essv6906790, essv6955373, essv6693482, essv6726460, essv6883726, essv6869195, essv6910685, essv6813727, essv6704396, essv6798130, essv6785695, essv6849598, essv6938321, essv6718752, essv6700341, essv6807889
SamplesSSM100, SSM071, SSM075, SSM046, SSM011, SSM079, SSM097, SSM039, SSM013, SSM093, SSM074, SSM088, SSM023, SSM028, SSM090, SSM047, SSM069, SSM029, SSM026, SSM035, SSM094, SSM032, SSM044, SSM014, SSM068, SSM081, SSM040, SSM072, SSM020, SSM015, SSM078, SSM005, SSM080, SSM037, SSM077, SSM022, SSM095, SSM004, SSM043, SSM012
Known GenesRSRC1
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)esv2726099
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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