A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720206



Internal ID9954502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184845566..184851663hg38UCSC Ensembl
Outerchr1:184814700..184820797hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386098
hg196098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6745051, essv6697086, essv6895956, essv6804519, essv6781015, essv6917829, essv6669167, essv6789289, essv6753621, essv6686261, essv6868824, essv6847234, essv6703967, essv6954959, essv6925814, essv6883352, essv6825122, essv6797588, essv6675334, essv6729751, essv6761939, essv6696676, essv6906237, essv6801730, essv6886084, essv6864126, essv6889133, essv6682945, essv6917570, essv6719843, essv6951374, essv6679306, essv6874815, essv6756651, essv6813283, essv6750715, essv6742257, essv6910184, essv6725990, essv6941938, essv6738936, essv6710715, essv6670277, essv6714375, essv6877932, essv6764263, essv6914106, essv6898723, essv6733588, essv6807491, essv6843996, essv6829129, essv6933438, essv6759167, essv6766655
SamplesSSM100, SSM059, SSM075, SSM046, SSM064, SSM038, SSM097, SSM073, SSM074, SSM042, SSM057, SSM023, SSM058, SSM092, SSM090, SSM021, SSM047, SSM061, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM014, SSM086, SSM033, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM007, SSM015, SSM016, SSM053, SSM005, SSM080, SSM077, SSM055, SSM070, SSM095, SSM034, SSM004, SSM099, SSM043, SSM052, SSM049, SSM063, SSM012
Known GenesFAM129A
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)esv2720206
Frequency
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer