A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718931



Internal ID9953223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54820970..54867361hg38UCSC Ensembl
Outerchr19:55332425..55378816hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3846392
hg1946392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917195, essv6668769, essv6678917, essv6678916, essv6895623, essv6717621, essv6917193, essv6747619, essv6898433, essv6744781, essv6868480, essv6678918, essv6801378, essv6950257, essv6835928, essv6832348, essv6725571, essv6696761, essv6874875, essv6782365, essv6766395, essv6877494, essv6782310, essv6733250, essv6667388, essv6946203, essv6756391, essv6874512, essv6901433, essv6769313, essv6786264, essv6725573, essv6710381, essv6928852, essv6898434, essv6961090, essv6721748, essv6950258, essv6858844, essv6921446, essv6741951, essv6928842, essv6793006, essv6917194, essv6764052, essv6961089, essv6815054, essv6874508, essv6725572, essv6874513, essv6780575, essv6843622, essv6928847, essv6782388, essv6843616, essv6733249, essv6950256, essv6946199, essv6780571, essv6933031, essv6937399, essv6871534, essv6744778, essv6880269, essv6678926, essv6868479, essv6741950, essv6925432, essv6928841, essv6846782, essv6674869, essv6750443
SamplesSSM100, SSM008, SSM024, SSM045, SSM011, SSM064, SSM087, SSM009, SSM093, SSM041, SSM023, SSM058, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM062, SSM026, SSM089, SSM017, SSM019, SSM032, SSM031, SSM067, SSM044, SSM001, SSM006, SSM085, SSM081, SSM072, SSM082, SSM020, SSM016, SSM053, SSM037, SSM091, SSM055, SSM070, SSM004, SSM099, SSM052, SSM098, SSM056, SSM030, SSM063
Known GenesKIR2DS4, KIR3DL1, KIR3DL2
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)esv2718931
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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