A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716502



Internal ID9950790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82411362..82412304hg38UCSC Ensembl
Outerchr17:80369238..80370180hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38943
hg19943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753081, essv6713661, essv6692225, essv6758700, essv6784361, essv6761482, essv6725238, essv6750174, essv6858338, essv6901989, essv6928563, essv6811933, essv6765487, essv6898172, essv6916836, essv6816086, essv6769069, essv6932689, essv6945809, essv6925068, essv6960545, essv6744518, essv6971624, essv6738405, essv6741674, essv6843236, essv6941155, essv6913366, essv6717575, essv6696360, essv6945052, essv6967010, essv6820534, essv6895314, essv6954050, essv6839887, essv6936988, essv6792636, essv6913096, essv6766185, essv6743998, essv6665936, essv6682279, essv6885570, essv6756104, essv6772832, essv6874214, essv6877234, essv6776416, essv6921009, essv6832029, essv6715465, essv6977262
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM053, SSM006, SSM036, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM078, SSM043, SSM064, SSM025, SSM020, SSM016, SSM057, SSM001, SSM045, SSM050, SSM077, SSM012, SSM056, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM095, SSM021, SSM002, SSM037, SSM063, SSM087, SSM019, SSM023, SSM052, SSM068, SSM004, SSM015, SSM026, SSM098, SSM018, SSM058, SSM059, SSM081, SSM070
Known GenesOGFOD3
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)esv2716502
Frequency
Sample Size96
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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