A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716886



Internal ID10300522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26554021..26554480hg38UCSC Ensembl
Outerchr18:24133985..24134444hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6840142, essv6699262, essv6945853, essv6763866, essv6898204, essv6913409, essv6732945, essv6692432, essv6885595, essv6804061, essv6713702, essv6780248, essv6880047, essv6685706, essv6925108, essv6666014, essv6872520, essv6674406, essv6832063, essv6843274, essv6776449, essv6905644, essv6941199, essv6678603, essv6916872, essv6801071, essv6738433, essv6812343, essv6932724, essv6863295, essv6835631, essv6871296, essv6692257, essv6744321, essv6792677, essv6750218
SamplesSSM036, SSM011, SSM038, SSM013, SSM009, SSM073, SSM093, SSM050, SSM042, SSM088, SSM023, SSM084, SSM090, SSM047, SSM018, SSM029, SSM062, SSM032, SSM031, SSM067, SSM066, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM005, SSM022, SSM010, SSM070, SSM095, SSM034, SSM099, SSM056
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)esv2716886
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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