A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719429



Internal ID10303065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2720869..2723133hg38UCSC Ensembl
Outerchr2:2724641..2726905hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg382265
hg192265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6777189, essv6773683, essv6840226, essv6906346, essv6829233, essv6898806, essv6710831, essv6704081, essv6889228, essv6968222, essv6844092, essv6825243, essv6942081, essv6886171, essv6789441, essv6917694, essv6933582, essv6868917, essv6910314, essv6739046, essv6955160, essv6864261, essv6813396, essv6669362, essv6818687, essv6797733, essv6961950, essv6921994, essv6874913, essv6859477, essv6883441, essv6896027, essv6679437, essv6785267, essv6879065, essv6847422, essv6766737, essv6675450, essv6714503, essv6671243, essv6793562, essv6781137, essv6722249, essv6769791, essv6710832, essv6718404, essv6874912, essv6699881, essv6914192, essv6781138, essv6933581, essv6832813, essv6693056, essv6807566, essv6950812, essv6846031, essv6918951, essv6836436, essv6892553, essv6801813, essv6972794, essv6821434, essv6910315, essv6952361, essv6766736, essv6968221, essv6704080, essv6946735, essv6750797, essv6937938, essv6693057
SamplesSSM100, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM064, SSM079, SSM065, SSM097, SSM039, SSM073, SSM042, SSM088, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM015, SSM016, SSM005, SSM080, SSM037, SSM077, SSM022, SSM010, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, 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)esv2719429
Frequency
Sample Size96
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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