A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2720206

Internal ID9954502
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184845566..184851663hg38UCSC Ensembl
Outerchr1:184814700..184820797hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6714375, essv6759167, essv6954959, essv6933438, essv6764263, essv6670277, essv6756651, essv6742257, essv6669167, essv6847234, essv6729751, essv6825122, essv6813283, essv6829129, essv6697086, essv6951374, essv6917829, essv6868824, essv6686261, essv6801730, essv6843996, essv6725990, essv6761939, essv6753621, essv6719843, essv6864126, essv6679306, essv6914106, essv6789289, essv6710715, essv6941938, essv6675334, essv6883352, essv6895956, essv6898723, essv6738936, essv6750715, essv6889133, essv6877932, essv6917570, essv6906237, essv6745051, essv6682945, essv6733588, essv6797588, essv6807491, essv6910184, essv6804519, essv6874815, essv6886084, essv6696676, essv6703967, essv6781015, essv6766655, essv6925814
SamplesSSM007, SSM092, SSM053, SSM086, SSM006, SSM055, SSM033, SSM061, SSM099, SSM042, SSM040, SSM043, SSM089, SSM090, SSM064, SSM031, SSM035, SSM072, SSM016, SSM057, SSM032, SSM097, SSM077, SSM062, SSM005, SSM012, SSM100, SSM085, SSM017, SSM003, SSM095, SSM047, SSM073, SSM021, SSM034, SSM063, SSM038, SSM046, SSM019, SSM096, SSM023, SSM052, SSM068, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesFAM129A
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2720206
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0

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