A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718926



Internal ID9953218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54763126..54859699hg38UCSC Ensembl
Outerchr19:55274578..55371154hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3896574
hg1996577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv536e201
Supporting Variantsessv6761703, essv6915140, essv6902302, essv6937397, essv6928850, essv6835923, essv6717510, essv6843618, essv6756390, essv6721741, essv6750443, essv6750436, essv6721745, essv6766394, essv6937398, essv6863680, essv6835927, essv6666558, essv6773189, essv6921450, essv6846783, essv6937395, essv6832344, essv6738672, essv6801374, essv6832346, essv6741955, essv6950249, essv6782354, essv6717521, essv6871533, essv6946202, essv6744781, essv6921448, essv6961088, essv6913735, essv6786487, essv6678922, essv6738671, essv6928844, essv6961087, essv6738670, essv6921445, essv6750440, essv6780567, essv6758905, essv6741952, essv6928849, essv6842242, essv6815043, essv6668764, essv6937390, essv6764049, essv6950253, essv6780573, essv6801375, essv6756391, essv6776713, essv6744777, essv6744779, essv6717912, essv6971996, essv6782332, essv6921449, essv6815031, essv6780570, essv6880268, essv6933033, essv6769313, essv6758906, essv6950245, essv6725573, essv6858842, essv6725568, essv6961090, essv6797178, essv6793005, essv6717543, essv6750439, essv6764054, essv6725569, essv6747618, essv6828778, essv6895620, essv6954431, essv6741951, essv6717599, essv6717576, essv6820946, essv6846781, essv6750441, essv6717913, essv6733245, essv6721746, essv6717565, essv6858840, essv6874503, essv6832347, essv6782377, essv6746698, essv6721747, essv6835924, essv6699435, essv6843614, essv6668767, essv6950247, essv6668770, essv6832340, essv6937394, essv6925431, essv6877490, essv6880267, essv6782343, essv6863682, essv6725570, essv6842231, essv6682612, essv6832345, essv6898432, essv6761704, essv6874507, essv6804251, essv6667377, essv6917192, essv6810185, essv6915152, essv6877493, essv6733242, essv6901431, essv6905893, essv6780566, essv6883107, essv6682611, essv6877492, essv6883110, essv6746710, essv6883105, essv6874506, essv6721749, essv6961086, essv6901434, essv6750438, essv6758904, essv6678914, essv6674871, essv6764051, essv6764050, essv6685953, essv6780558, essv6741953, essv6843617, essv6895619, essv6717587, essv6967559, essv6744780, essv6766393, essv6797179, essv6780564, essv6902301, essv6750435, essv6925428, essv6954430
SamplesSSM100, SSM059, SSM008, SSM071, SSM027, SSM024, SSM075, SSM045, SSM064, SSM065, SSM087, SSM038, SSM013, SSM009, SSM073, SSM093, SSM050, SSM088, SSM002, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM061, SSM029, SSM062, SSM026, SSM017, SSM019, SSM094, SSM032, SSM031, SSM067, SSM044, SSM001, SSM033, SSM066, SSM006, SSM085, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM010, SSM091, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM063, SSM012
Known GenesKIR2DL1, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
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)esv2718926
Frequency
Sample Size96
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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