A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2716502

Internal ID9950790
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82411362..82412304hg38UCSC Ensembl
Outerchr17:80369238..80370180hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2716502
Sample Size96
Observed Gain0
Observed Loss53
Observed Complex0

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