A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2750455

Internal ID9984739
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6068764..6960471hg38UCSC Ensembl
Outerchr16:6118765..7010472hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945488, essv6706624, essv6846317, essv6696068, essv6905354, essv6792335, essv6768861, essv6920714, essv6792334, essv6846318, essv6966563, essv6776422, essv6900980, essv6806738, essv6713403, essv6688662, essv6839094, essv6741864, essv6815851, essv6877040, essv6673938, essv6838142, essv6724937, essv6806737, essv6942873, essv6682001, essv6699065, essv6702935, essv6752906, essv6696070, essv6828182, essv6913059, essv6877039, essv6706625, essv6851963, essv6862971, essv6966562, essv6758550, essv6928315, essv6673939, essv6696067, essv6924829, essv6768862, essv6721146, essv6846316, essv6960093, essv6800719, essv6696069, essv6741492, essv6768860
SamplesSSM010, SSM007, SSM027, SSM092, SSM013, SSM086, SSM033, SSM042, SSM040, SSM088, SSM064, SSM031, SSM035, SSM072, SSM057, SSM039, SSM045, SSM083, SSM077, SSM100, SSM085, SSM017, SSM003, SSM037, SSM038, SSM019, SSM023, SSM052, SSM044, SSM074, SSM015, SSM026, SSM008, SSM018, SSM059, SSM070, SSM080
Known GenesRBFOX1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2750455
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0

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