A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716142



Internal ID10299778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68231376..68231660hg38UCSC Ensembl
Outerchr17:66227517..66227801hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732867, essv6703200, essv6780173, essv6809920, essv6932653, essv6879996, essv6678533, essv6945760, essv6778343, essv6750145, essv6888569, essv6868027, essv6696324, essv6877208, essv6816056, essv6846493, essv6835563, essv6901965, essv6949841, essv6872031, essv6665875, essv6920971, essv6710080, essv6828402, essv6895292, essv6756081, essv6796777, essv6735623, essv6913338, essv6776382, essv6717537, essv6692200, essv6804007, essv6753064, essv6936954, essv6688858, essv6891855, essv6928535, essv6832000, essv6691955, essv6941112, essv6820495, essv6784326, essv6898149, essv6916805, essv6960477, essv6839347, essv6674309, essv6966958, essv6792602, essv6761467, essv6954015
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM011, SSM097, SSM039, SSM073, SSM093, SSM041, SSM057, SSM023, SSM058, SSM092, SSM021, SSM047, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM032, SSM031, SSM067, SSM066, SSM085, SSM068, SSM081, SSM082, SSM020, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM022, SSM070, SSM025, SSM099, SSM043, SSM098, SSM049, SSM056, 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)esv2716142
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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