A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2718928

Internal ID9953220
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54775799..54832711hg38UCSC Ensembl
Outerchr19:55287251..55344166hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6725570, essv6764050, essv6950247, essv6761704, essv6877492, essv6905893, essv6699435, essv6877490, essv6717576, essv6835923, essv6764049, essv6682611, essv6747618, essv6668764, essv6758904, essv6921445, essv6954430, essv6928850, essv6954431, essv6950249, essv6835927, essv6921450, essv6782343, essv6895620, essv6937398, essv6797178, essv6828778, essv6721741, essv6961088, essv6820946, essv6678922, essv6902302, essv6842231, essv6717521, essv6797179, essv6780566, essv6880267, essv6901434, essv6782332, essv6746710, essv6895619, essv6741953, essv6863682, essv6950253, essv6883107, essv6668770, essv6682612, essv6832345, essv6858842, essv6725569, essv6801374, essv6877493, essv6667377, essv6832347, essv6901431, essv6843614, essv6738670, essv6793005, essv6921449, essv6733245, essv6967559, essv6780558, essv6843618, essv6915152, essv6733242, essv6766394, essv6741955, essv6843617, essv6832346, essv6721747, essv6832340, essv6776713, essv6750439, essv6913735, essv6928844, essv6721745, essv6917192, essv6815043, essv6674871, essv6744779, essv6801375, essv6858840, essv6717912, essv6721746, essv6937397, essv6717510, essv6738671, essv6780567
SamplesSSM010, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM006, SSM055, SSM033, SSM084, SSM061, SSM078, SSM043, SSM088, SSM031, SSM025, SSM072, SSM071, SSM016, SSM032, SSM024, SSM045, SSM067, SSM094, SSM050, SSM062, SSM012, SSM093, SSM100, SSM056, SSM017, SSM009, SSM066, SSM030, SSM047, SSM021, SSM002, SSM063, SSM087, SSM038, SSM019, SSM052, SSM044, SSM004, SSM015, SSM026, SSM008, SSM098, SSM059, SSM081, SSM070, SSM080
Known GenesKIR2DL1, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2718928
Sample Size96
Observed Gain0
Observed Loss53
Observed Complex0

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