A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723394



Internal ID3273890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:36492105..36492566hg38UCSC Ensembl
Outerchr21:37864403..37864864hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801531, essv6913897, essv6821075, essv6747722, essv6744883, essv6682751, essv6718061, essv6859066, essv6758993, essv6933196, essv6747687, essv6843796, essv6967783, essv6707197, essv6783832, essv6925593, essv6928968, essv6695277, essv6901538, essv6776831, essv6714136, essv6946380, essv6766480, essv6718342, essv6738749, essv6921621, essv6898538, essv6902436, essv6917327, essv6668633
SamplesSSM007, SSM027, SSM053, SSM006, SSM055, SSM033, SSM084, SSM099, SSM042, SSM040, SSM078, SSM043, SSM072, SSM020, SSM016, SSM050, SSM005, SSM012, SSM100, SSM017, SSM066, SSM063, SSM087, SSM019, SSM023, SSM004, SSM015, SSM008, SSM018, SSM059
Known GenesCLDN14
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)esv2723394
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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