A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720394



Internal ID10304030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:144804398..144813093hg38UCSC Ensembl
Outerchr2:91751067..91759812hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg388696
hg198746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968332, essv6821519, essv6972971, essv6777487, essv6832905, essv6925989, essv6797824, essv6879776, essv6733715, essv6846865, essv6785372, essv6722327, essv6859581, essv6933675, essv6836524, essv6756779, essv6906446, essv6801878, essv6753769, essv6726188, essv6766793, essv6917787, essv6777278, essv6781247, essv6683120, essv6810580, essv6883503, essv6825352, essv6892636, essv6714588, essv6693161, essv6829319, essv6880666, essv6750867, essv6902850, essv6759313, essv6847566, essv6804683, essv6762044, essv6729956, essv6914271, essv6840322, essv6793669, essv6864380, essv6710923, essv6877912, essv6819242, essv6886236
SamplesSSM059, SSM083, SSM071, SSM045, SSM046, SSM011, SSM064, SSM079, SSM013, SSM073, SSM093, SSM074, SSM042, SSM088, SSM057, SSM058, SSM028, SSM084, SSM021, SSM047, SSM069, SSM061, SSM029, SSM096, SSM062, SSM089, SSM017, SSM019, SSM094, SSM067, SSM001, SSM014, SSM086, SSM068, SSM081, SSM072, SSM082, SSM016, SSM080, SSM037, SSM076, SSM010, SSM095, SSM034, SSM043, 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)esv2720394
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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