A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2718187

Internal ID9952478
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11922412..11962854hg38UCSC Ensembl
Outerchr19:12033227..12073669hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666378, essv6852760, essv6888760, essv6696672, essv6781121, essv6692424, essv6744699, essv6735797, essv6780474, essv6841364, essv6689038, essv6750360, essv6773099, essv6810117, essv6917086, essv6839628, essv6788792, essv6883047, essv6674763, essv6871459, essv6706995, essv6758848, essv6792897, essv6874411, essv6874042, essv6693743, essv6776649, essv6804196, essv6801286, essv6820847, essv6816297, essv6761645, essv6960960, essv6779598, essv6941401, essv6971904, essv6892073, essv6909755, essv6766327, essv6784624, essv6721659, essv6905804, essv6713922, essv6738595, essv6846695, essv6868377, essv6928761, essv6797086, essv6682517, essv6710317, essv6880201, essv6745798, essv6954326, essv6843498, essv6877422, essv6729301, essv6914429, essv6858716, essv6725475, essv6921311, essv6835845, essv6733146, essv6758849, essv6747544, essv6932925, essv6813998, essv6828701, essv6769243, essv6756305, essv6716698, essv6812925, essv6863569, essv6753271, essv6937290, essv6947374, essv6885746, essv6913640, essv6824627, essv6895544, essv6901361, essv6925333, essv6898346, essv6902209, essv6967446, essv6699383, essv6717804, essv6832262
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM079, SSM068, SSM044, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesZNF700
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2718187
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0

Hosted by The Centre for Applied Genomics
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