A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717524



Internal ID9951815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78430677..78431526hg38UCSC Ensembl
Outerchr18:76190677..76191526hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38850
hg19850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv473e201
Supporting Variantsessv6873109, essv6928645, essv6945963, essv6905689, essv6828546, essv6932786, essv6868180, essv6710196, essv6916922, essv6921114, essv6688948, essv6692306, essv6744798, essv6780314, essv6960713, essv6941260, essv6954153, essv6682380, essv6788645, essv6843337, essv6792747, essv6729126, essv6717668, essv6674520, essv6832115, essv6820659, essv6801138, essv6747421, essv6852539, essv6835683, essv6796923, essv6744594, essv6967179
SamplesSSM036, SSM071, SSM027, SSM046, SSM011, SSM013, SSM041, SSM084, SSM069, SSM026, SSM089, SSM017, SSM019, SSM035, SSM003, SSM031, SSM067, SSM086, SSM033, SSM081, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM080, SSM022, SSM055, SSM070, SSM025, SSM043
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)esv2717524
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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