A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723060



Internal ID10306696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9994470..10050441hg38UCSC Ensembl
Outerchr21:10472498..10528469hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3855972
hg1955972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839836, essv6666749, essv6961290, essv6868602, essv6874606, essv6801496, essv6695076, essv6783465, essv6729481, essv6794487, essv6679014, essv6686053, essv6874608, essv6863804, essv6756459, essv6707166, essv6875653, essv6703714, essv6917288, essv6821049, essv6707169, essv6949063, essv6747488, essv6750515, essv6843758, essv6828880, essv6682726, essv6747688, essv6747499, essv6967725, essv6788995, essv6836034, essv6813078, essv6901505, essv6714107, essv6721859, essv6758977, essv6892203, essv6871622, essv6769410, essv6695065, essv6877591, essv6941632, essv6874607, essv6797304, essv6921592, essv6721857, essv6793141, essv6668343, essv6950393, essv6813075, essv6807273, essv6967744, essv6921591, essv6917289, essv6863805, essv6725705, essv6906000, essv6718209, essv6902403, essv6883168, essv6766462, essv6758975, essv6843757, essv6794376, essv6747689, essv6810251, essv6689160, essv6853038, essv6824833, essv6804316, essv6892204, essv6954554, essv6950397, essv6750516, essv6816463, essv6686055, essv6780712, essv6901506, essv6885890, essv6666748, essv6801495, essv6718220, essv6824834, essv6915907, essv6880334, essv6853040, essv6692619, essv6913865, essv6753424, essv6710482, essv6761779, essv6793142, essv6784837, essv6776802, essv6972136, essv6871623, essv6921590, essv6699503, essv6941633, essv6946337, essv6950394, essv6859011, essv6828879, essv6761780, essv6692622, essv6950395, essv6721858, essv6753423, essv6738730, essv6744857, essv6696882, essv6784836, essv6707164, essv6928939, essv6710483, essv6801494, essv6679013, essv6933158, essv6933157, essv6949074, essv6905997, essv6682725, essv6846873, essv6877592, essv6961291, essv6902402, essv6756460, essv6692620, essv6784838, essv6744858, essv6909920, essv6883167, essv6807272, essv6686056, essv6780713, essv6788996, essv6797303, essv6696883, essv6895730, essv6668831, essv6925559, essv6868603, essv6738729, essv6703713, essv6917287, essv6733371, essv6689159, essv6875642, essv6675037, essv6853039, essv6668354, essv6816462, essv6863806, essv6941631, essv6871621
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM098, SSM056, SSM030, SSM063, 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)esv2723060
Frequency
Sample Size96
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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