A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716885



Internal ID9951174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26465562..26466406hg38UCSC Ensembl
Outerchr18:24045526..24046370hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38845
hg19845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780247, essv6753114, essv6928598, essv6901192, essv6696405, essv6945851, essv6967070, essv6692421, essv6828470, essv6937025, essv6792675, essv6895346, essv6806956, essv6913408, essv6858389, essv6871295, essv6954089, essv6744547, essv6776448, essv6674405, essv6678602, essv6750217, essv6804060, essv6772873, essv6801070, essv6788582, essv6913418, essv6779077, essv6761514, essv6877262, essv6741716, essv6921056, essv6843273, essv6812332, essv6725280, essv6738432, essv6874244, essv6685705, essv6891897, essv6916871, essv6713701, essv6816123, essv6688898, essv6872509, essv6902021, essv6971665, essv6832062, essv6960605, essv6852426, essv6721462, essv6824405, essv6882878, essv6767931, essv6905643, essv6945429, essv6729080, essv6839410, essv6846541, essv6863294, essv6796857, essv6744310, essv6747380, essv6692256, essv6932723, essv6949924, essv6868103, essv6941198, essv6682327, essv6809964, essv6835630, essv6784402, essv6703279, essv6885594, essv6925106, essv6699261, essv6717617, essv6898203, essv6666013, essv6880046, essv6732944
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM052, SSM098, SSM056, SSM012
Known GenesKCTD1
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)esv2716885
Frequency
Sample Size96
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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