A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726478



Internal ID10310114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195619266..195619575hg38UCSC Ensembl
Outerchr3:195346137..195346446hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813771, essv6854292, essv6802120, essv6833207, essv6962653, essv6798183, essv6844440, essv6882620, essv6968678, essv6777580, essv6938364, essv6745449, essv6759563, essv6951279, essv6774076, essv6679832, essv6730273, essv6896324, essv6733938, essv6751128, essv6918128, essv6914547, essv6789863, essv6767035, essv6934024, essv6955923, essv6723965, essv6875233, essv6840632, essv6910726, essv6929805, essv6821665, essv6922469
SamplesSSM027, SSM064, SSM087, SSM073, SSM057, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM061, SSM026, SSM017, SSM067, SSM033, SSM066, SSM085, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM077, SSM022, SSM010, SSM055, SSM070, SSM025, SSM099, 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)esv2726478
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer