A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2727542

Internal ID9961852
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:48659397..48659897hg38UCSC Ensembl
Outerchr4:48661414..48661914hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6751200, essv6914643, essv6899239, essv6844515, essv6707956, essv6667278, essv6836921, essv6883487, essv6942769, essv6848274, essv6934145, essv6906911, essv6973828, essv6722785, essv6864934, essv6883821, essv6755710, essv6929921, essv6711362, essv6896401, essv6777678, essv6724643, essv6674698, essv6748356, essv6922575, essv6745525, essv6734008, essv6700532, essv6854433, essv6774166, essv6789967, essv6872324, essv6757039, essv6730402, essv6736571, essv6810891, essv6881005, essv6923530, essv6726613, essv6956451, essv6715018, essv6938474, essv6947293, essv6822210, essv6860144, essv6875299, essv6849375, essv6893006, essv6869299, essv6918223, essv6968808, essv6850797, essv6829706, essv6926358, essv6754116, essv6817519, essv6910846, essv6956122, essv6670244, essv6962831, essv6903237, essv6916484, essv6791021
SamplesSSM010, SSM022, SSM007, SSM027, SSM092, SSM013, SSM086, SSM006, SSM055, SSM091, SSM099, SSM042, SSM078, SSM043, SSM088, SSM089, SSM090, SSM031, SSM020, SSM016, SSM057, SSM001, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM041, SSM005, SSM012, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM021, SSM002, SSM087, SSM046, SSM019, SSM023, SSM004, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070
Known GenesFRYL
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2727542
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0

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