A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716003



Internal ID10299639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47157386..47171876hg38UCSC Ensembl
Outerchr17:45234752..45249242hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3814491
hg1914491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv423e201
Supporting Variantsessv6905563, essv6882817, essv6976873, essv6846483, essv6800974, essv6925009, essv6776362, essv6780145, essv6750132, essv6692189, essv6966928, essv6871886, essv6885536, essv6971575, essv6762264, essv6916785, essv6871233, essv6928517, essv6743687, essv6858275, essv6803988, essv6753048, essv6784303, essv6888556, essv6901130, essv6738371, essv6824313, essv6809906, essv6699204, essv6692187, essv6692178, essv6949814, essv6792577, essv6953993, essv6816036, essv6762486, essv6835542, essv6776361, essv6882826, essv6750133, essv6960445, essv6696295, essv6877194, essv6828384, essv6831973, essv6725189, essv6898130, essv6895270, essv6912730, essv6665845, essv6945743, essv6778166, essv6691787, essv6809900, essv6776359, essv6728982, essv6713611, essv6891838, essv6820470, essv6909519, essv6732845, essv6750134, essv6741635, essv6691821, essv6691809, essv6874171, essv6706844, essv6971579, essv6920956, essv6941091, essv6909515, essv6901951, essv6863202, essv6725180, essv6772784, essv6852288, essv6715187, essv6839653, essv6747314, essv6738372, essv6949821, essv6741636, essv6758680, essv6699194, essv6744480, essv6891840, essv6868010, essv6772777, essv6944561, essv6721366, essv6843181, essv6811576, essv6769039, essv6976951, essv6796755, essv6769033, essv6678515, essv6788486, essv6688845, essv6758677, essv6674278, essv6685640, essv6682229, essv6909517, essv6839327, essv6811499, essv6703174, essv6936943, essv6868013, essv6913316, essv6879974, essv6932626, essv6668560, essv6806890, essv6706836, essv6812714, essv6710058, essv6717516
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM012
Known GenesCDC27
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)esv2716003
Frequency
Sample Size96
Observed Gain0
Observed Loss91
Observed Complex0
Frequencyn/a


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