A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721364



Internal ID10305000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201281895..201284709hg38UCSC Ensembl
Outerchr2:202146618..202149432hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382815
hg192815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825470, essv6804753, essv6896147, essv6759382, essv6955512, essv6847730, essv6917891, essv6748117, essv6686526, essv6726283, essv6817118, essv6951004, essv6832997, essv6844249, essv6722419, essv6942309, essv6914356, essv6773856, essv6700103, essv6910499, essv6736327, essv6922209, essv6739212, essv6704234, essv6753855, essv6730037, essv6933775, essv6836609, essv6864514, essv6714669, essv6764461, essv6859726, essv6693272, essv6667119, essv6722155, essv6889397, essv6821613, essv6785472, essv6698453, essv6711008, essv6926066, essv6707653, essv6869056, essv6827709, essv6847876, essv6756847, essv6877982, essv6672488, essv6886304, essv6789627, essv6733781, essv6883574, essv6853913, essv6718573, essv6880586, essv6793751, essv6880743, essv6962272, essv6781356, essv6679606, essv6902942, essv6872055, essv6777358, essv6946940, essv6892711, essv6742483, essv6750933, essv6683208, essv6766852, essv6762105, essv6898964, essv6875050, essv6813546, essv6745267, essv6836375, essv6829403, essv6752509, essv6968427, essv6769966, essv6840403, essv6697310, essv6906577, essv6669697, essv6807731, essv6810650, essv6675636, essv6819887
SamplesSSM100, SSM059, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM082, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesCASP8
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)esv2721364
Frequency
Sample Size96
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


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