A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725167



Internal ID10308803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38876941..38877996hg38UCSC Ensembl
Outerchr3:38918432..38919487hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955696, essv6742552, essv6673121, essv6881553, essv6802017, essv6906685, essv6707736, essv6892800, essv6700209, essv6704312, essv6807807, essv6854069, essv6889486, essv6933882, essv6921429, essv6859855, essv6698988, essv6848643, essv6847894, essv6914435, essv6906683, essv6683290, essv6817222, essv6962436, essv6766938, essv6864645, essv6817223, essv6864644, essv6938214, essv6917988, essv6859853, essv6942437, essv6947053, essv6854070, essv6872132, essv6669850
SamplesSSM027, SSM024, SSM075, SSM011, SSM064, SSM087, SSM097, SSM039, SSM073, SSM088, SSM041, SSM023, SSM021, SSM026, SSM089, SSM017, SSM003, SSM031, SSM014, SSM086, SSM006, SSM040, SSM078, SSM016, SSM053, SSM005, SSM022, SSM091, SSM034, SSM098, SSM012
Known GenesSCN11A
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)esv2725167
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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