A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718187



Internal ID9952478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11922412..11962854hg38UCSC Ensembl
Outerchr19:12033227..12073669hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3840443
hg1940443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717804, essv6892073, essv6674763, essv6820847, essv6725475, essv6883047, essv6766327, essv6773099, essv6841364, essv6898346, essv6914429, essv6863569, essv6758848, essv6921311, essv6846695, essv6733146, essv6781121, essv6735797, essv6909755, essv6917086, essv6832262, essv6960960, essv6901361, essv6780474, essv6750360, essv6967446, essv6871459, essv6801286, essv6843498, essv6706995, essv6816297, essv6804196, essv6761645, essv6710317, essv6666378, essv6880201, essv6835845, essv6744699, essv6877422, essv6928761, essv6797086, essv6852760, essv6895544, essv6721659, essv6913640, essv6738595, essv6696672, essv6868377, essv6954326, essv6813998, essv6810117, essv6792897, essv6885746, essv6716698, essv6779598, essv6756305, essv6824627, essv6839628, essv6828701, essv6753271, essv6745798, essv6699383, essv6682517, essv6874411, essv6925333, essv6905804, essv6941401, essv6758849, essv6888760, essv6689038, essv6692424, essv6747544, essv6874042, essv6788792, essv6932925, essv6769243, essv6713922, essv6858716, essv6971904, essv6784624, essv6947374, essv6937290, essv6693743, essv6902209, essv6812925, essv6776649, essv6729301
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM013, SSM009, SSM073, SSM093, SSM050, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, 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, SSM004, SSM099, SSM043, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesZNF700
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)esv2718187
Frequency
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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