A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740666



Internal ID9975009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11688451..11747408hg38UCSC Ensembl
OuterchrY:13809157..13868114hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg3858958
hg1958958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1331e201
Supporting Variantsessv6824588, essv6835792, essv6780439, essv6801233, essv6921249, essv6888734, essv6839579, essv6880167, essv6678792, essv6917048, essv6883012, essv6888729, essv6874377, essv6824578, essv6888728, essv6756262, essv6937224, essv6816256, essv6895502, essv6713873, essv6780438, essv6868327, essv6780732, essv6863522, essv6925271, essv6843440, essv6921254, essv6835799, essv6895505, essv6839578, essv6832226, essv6888732, essv6763961, essv6678797, essv6880171, essv6729256, essv6880169, essv6871424, essv6828658, essv6763958, essv6685863, essv6937220, essv6950111, essv6839581, essv6824579, essv6828660, essv6925272, essv6696616, essv6738552, essv6729255, essv6696614, essv6696613, essv6883013, essv6901329, essv6780437, essv6729254, essv6937221, essv6828656, essv6801234, essv6713871, essv6892049, essv6832227, essv6780698, essv6763956, essv6967357, essv6763954, essv6801244, essv6729243, essv6967356, essv6832225, essv6678791, essv6888730, essv6678796, essv6901330, essv6839580, essv6828659, essv6713872, essv6917051, essv6674697, essv6812892, essv6925283, essv6937223, essv6917050, essv6828657, essv6835801, essv6883011, essv6824586, essv6780721, essv6824585, essv6820790, essv6880168, essv6810091, essv6816258, essv6885718, essv6863528, essv6917047, essv6816259, essv6877386, essv6810092, essv6674696, essv6835793, essv6937225, essv6967358, essv6885714, essv6917046, essv6863525, essv6835791, essv6921253, essv6807093, essv6763962, essv6868330, essv6843441, essv6947041, essv6729241, essv6892047, essv6846663, essv6820787, essv6863527, essv6678793, essv6685862, essv6685866, essv6880170, essv6696612, essv6871425, essv6937227, essv6885715, essv6843439, essv6950101, essv6925286, essv6816257, essv6744669, essv6820789, essv6674695, essv6807099, essv6846662, essv6747505, essv6917043, essv6674690, essv6898315, essv6807092
SamplesSSM100, SSM008, SSM083, SSM027, SSM024, SSM075, SSM046, SSM079, SSM097, SSM093, SSM050, SSM074, SSM042, SSM088, SSM058, SSM092, SSM084, SSM090, SSM021, SSM018, SSM096, SSM062, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM085, SSM081, SSM072, SSM082, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM091, SSM055, SSM095, SSM034, SSM099, SSM098
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)esv2740666
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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