A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719430



Internal ID10303066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2720887..2721437hg38UCSC Ensembl
Outerchr2:2724659..2725209hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38551
hg19551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv575e201
Supporting Variantsessv6777189, essv6773683, essv6829233, essv6898806, essv6710831, essv6889228, essv6844092, essv6942081, essv6789441, essv6917694, essv6910314, essv6739046, essv6813396, essv6818687, essv6797733, essv6961950, essv6921994, essv6883441, essv6896027, essv6679437, essv6785267, essv6847422, essv6675450, essv6714503, essv6671243, essv6793562, essv6781137, essv6722249, essv6769791, essv6718404, essv6874912, essv6699881, essv6914192, essv6933581, essv6832813, essv6693056, essv6807566, essv6846031, essv6918951, essv6836436, essv6892553, essv6801813, essv6821434, essv6952361, essv6766736, essv6968221, essv6704080, essv6946735, essv6937938
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM064, SSM079, SSM065, SSM097, SSM039, SSM073, SSM042, SSM023, SSM028, SSM092, SSM021, SSM018, SSM069, SSM017, SSM032, SSM003, SSM067, SSM044, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM015, SSM016, SSM005, SSM037, SSM077, SSM022, SSM010, SSM070, SSM095, SSM004, SSM099, SSM043, SSM052, SSM098
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)esv2719430
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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