A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2718931

Internal ID9953223
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54820970..54867361hg38UCSC Ensembl
Outerchr19:55332425..55378816hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696761, essv6877494, essv6921446, essv6946199, essv6874875, essv6710381, essv6925432, essv6756391, essv6950256, essv6780575, essv6725572, essv6950257, essv6782388, essv6835928, essv6871534, essv6678917, essv6928847, essv6898434, essv6874512, essv6678918, essv6846782, essv6674869, essv6741950, essv6782365, essv6667388, essv6733250, essv6917194, essv6880269, essv6950258, essv6801378, essv6815054, essv6764052, essv6780571, essv6937399, essv6898433, essv6843622, essv6678926, essv6721748, essv6717621, essv6678916, essv6725571, essv6786264, essv6793006, essv6725573, essv6832348, essv6917195, essv6928852, essv6782310, essv6858844, essv6917193, essv6769313, essv6961090, essv6747619, essv6933031, essv6961089, essv6766395, essv6874513, essv6744781, essv6895623, essv6733249, essv6946203, essv6928842, essv6843616, essv6741951, essv6868480, essv6668769, essv6750443, essv6868479, essv6901433, essv6928841, essv6874508, essv6744778
SamplesSSM092, SSM053, SSM082, SSM006, SSM055, SSM091, SSM084, SSM099, SSM089, SSM090, SSM064, SSM031, SSM072, SSM020, SSM016, SSM001, SSM032, SSM024, SSM045, SSM067, SSM041, SSM062, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM030, SSM047, SSM021, SSM037, SSM063, SSM087, SSM019, SSM023, SSM052, SSM044, SSM004, SSM026, SSM008, SSM098, SSM018, SSM058, SSM081, SSM070
Known GenesKIR2DS4, KIR3DL1, KIR3DL2
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2718931
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0

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