A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718366



Internal ID9952657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:22957981..22960132hg38UCSC Ensembl
Outerchr19:23140783..23142934hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg382152
hg192152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761658, essv6764009, essv6797115, essv6758870, essv6769263, essv6689057, essv6812949, essv6967482, essv6707022, essv6716976, essv6950182, essv6721675, essv6717833, essv6668723, essv6852791, essv6888783, essv6925350, essv6780497, essv6877440, essv6932947, essv6858766, essv6810134, essv6814277, essv6750382, essv6863600, essv6784650, essv6713946, essv6971930, essv6954354, essv6913673, essv6699398, essv6937321, essv6744720, essv6946120, essv6678868, essv6902233, essv6874298, essv6682547, essv6804213, essv6917116, essv6947651, essv6843529, essv6898369, essv6846725, essv6820885, essv6753297, essv6928783, essv6781432, essv6756327, essv6941423, essv6776670, essv6839654, essv6832285, essv6801311, essv6835868, essv6909781, essv6703538, essv6781709, essv6824652, essv6871484, essv6666441, essv6746065, essv6741892, essv6735812, essv6747564, essv6905826, essv6738615, essv6788815, essv6725500, essv6828719, essv6696693, essv6874434, essv6766347, essv6729322, essv6816319, essv6841675, essv6666711, essv6921338, essv6733168, essv6674788
SamplesSSM059, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM050, SSM042, SSM088, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM025, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
Known Genes
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)esv2718366
Frequency
Sample Size96
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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