A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727260



Internal ID10310896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:20405909..20406946hg38UCSC Ensembl
Outerchr4:20407532..20408569hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg381038
hg191038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802165, essv6810864, essv6860108, essv6883276, essv6707916, essv6739472, essv6781670, essv6785826, essv6789940, essv6777654, essv6926336, essv6726581, essv6724443, essv6836900, essv6962780, essv6833275, essv6790809, essv6805007, essv6889660, essv6711325, essv6829687, essv6693611, essv6822066, essv6869278, essv6807981, essv6896373, essv6697533, essv6754090, essv6956058, essv6742693, essv6968771, essv6674543, essv6722731, essv6762291, essv6751180, essv6667261, essv6675946, essv6847598, essv6840719, essv6736551, essv6821896, essv6730356, essv6886543, essv6922547, essv6714992, essv6700321, essv6767096, essv6745496, essv6798273, essv6918206, essv6854394, essv6956163, essv6929894, essv6880982, essv6770289, essv6757022, essv6817481, essv6700444, essv6718855, essv6973769, essv6899212, essv6923251, essv6914620, essv6848227, essv6914484
SamplesSSM100, SSM059, SSM083, SSM027, SSM075, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM017, SSM019, SSM094, SSM032, SSM003, SSM067, SSM044, SSM001, SSM086, SSM006, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM005, SSM037, SSM076, SSM010, SSM055, SSM070, SSM004, SSM099, SSM043, SSM052, SSM030, SSM012
Known GenesSLIT2
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)esv2727260
Frequency
Sample Size96
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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