A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725943



Internal ID10309579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133784896..133786242hg38UCSC Ensembl
Outerchr3:133503740..133505086hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381347
hg191347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807873, essv6889553, essv6813711, essv6810779, essv6733893, essv6848049, essv6764577, essv6918070, essv6711200, essv6869178, essv6745386, essv6821774, essv6929738, essv6726448, essv6730207, essv6679770, essv6906769, essv6854200, essv6707811, essv6699510, essv6829572, essv6955838, essv6838709, essv6693463, essv6938302, essv6886441, essv6833152, essv6766984, essv6802074, essv6781525, essv6697435, essv6723443, essv6933965, essv6669986, essv6947126, essv6770148, essv6718733, essv6785677, essv6736452, essv6892870, essv6859957, essv6683360, essv6789665, essv6667197, essv6882154, essv6875183, essv6880888, essv6689820, essv6675816, essv6821210, essv6955262, essv6922040, essv6906151, essv6714853, essv6968620, essv6751074, essv6817335, essv6896275, essv6777523
SamplesSSM036, SSM024, SSM075, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM009, SSM073, SSM050, SSM042, SSM088, SSM002, SSM041, SSM057, SSM028, SSM092, SSM090, SSM021, SSM047, SSM069, SSM096, SSM026, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM006, SSM068, SSM081, SSM082, SSM020, SSM007, SSM078, SSM037, SSM077, SSM076, SSM022, SSM010, SSM055, SSM034, SSM004, SSM099, SSM043, SSM098, SSM049, SSM030, SSM063, SSM012
Known GenesSRPRB
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)esv2725943
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer