A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726434



Internal ID10310070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194400407..194401197hg38UCSC Ensembl
Outerchr3:194121136..194121926hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6789854, essv6790155, essv6864803, essv6878150, essv6697481, essv6745445, essv6670071, essv6774067, essv6951272, essv6730263, essv6683411, essv6810825, essv6880934, essv6962641, essv6899156, essv6723943, essv6754039, essv6751123, essv6711250, essv6836803, essv6922585, essv6929791, essv6844435, essv6679825, essv6759560, essv6707863, essv6914538, essv6869223, essv6875228, essv6882575, essv6968670, essv6938356, essv6674031, essv6733935, essv6942609, essv6807928, essv6722655, essv6910720, essv6699933, essv6777573, essv6842708, essv6848128, essv6889606, essv6821621, essv6770202, essv6840625, essv6802115, essv6849987, essv6700382, essv6892911, essv6767028
SamplesSSM100, SSM083, SSM027, SSM075, SSM045, SSM011, SSM064, SSM065, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM042, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM047, SSM061, SSM089, SSM094, SSM003, SSM031, SSM067, SSM086, SSM033, SSM066, SSM006, SSM085, SSM020, SSM007, SSM015, SSM016, SSM005, SSM076, SSM022, SSM010, SSM055, SSM070, SSM025, SSM034, SSM098, SSM049, 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)esv2726434
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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