A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718817



Internal ID9953109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53366586..53470103hg38UCSC Ensembl
Outerchr19:53869839..53973357hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38103518
hg19103519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv530e201
Supporting Variantsessv6928832, essv6954416, essv6738664, essv6868463, essv6933012, essv6814909, essv6746610, essv6954418, essv6747606, essv6892128, essv6852856, essv6835911, essv6713985, essv6843592, essv6707075, essv6925415, essv6877480, essv6846773, essv6846772, essv6858826, essv6725551, essv6788869, essv6692506, essv6828769, essv6842165, essv6746599, essv6682603, essv6746587, essv6667288, essv6917180, essv6928833, essv6744766, essv6773184, essv6733225, essv6692507, essv6674855, essv6753344, essv6948129, essv6699429, essv6925414, essv6812993, essv6915096, essv6913727, essv6733226, essv6674856, essv6721727, essv6668760, essv6961067, essv6921426, essv6807189, essv6707077, essv6717902, essv6967546, essv6797169, essv6703592, essv6666531, essv6915085, essv6961069, essv6858827, essv6905886, essv6950234, essv6941488, essv6782155, essv6721728, essv6782166, essv6692508, essv6797168, essv6788867, essv6961068, essv6839715, essv6761698, essv6905888, essv6694354, essv6746576, essv6733224, essv6888819
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM050, SSM074, SSM042, SSM002, SSM057, SSM092, SSM084, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM003, SSM031, SSM044, SSM086, SSM033, SSM085, SSM040, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM080, SSM076, SSM022, SSM010, SSM055, SSM025, SSM004, SSM043, SSM030
Known GenesTPM3P9, ZNF525, ZNF761, ZNF765, ZNF813
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)esv2718817
Frequency
Sample Size96
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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