A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2722385

Internal ID9956684
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37187137..37187533hg38UCSC Ensembl
Outerchr20:35815540..35815936hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780382, essv6699339, essv6820732, essv6967273, essv6828605, essv6941319, essv6678745, essv6946013, essv6685817, essv6909712, essv6885676, essv6706934, essv6852648, essv6729194, essv6863460, essv6880129, essv6807049, essv6873620, essv6892002, essv6874329, essv6960812, essv6843397, essv6721589, essv6810054, essv6824540, essv6868254, essv6946396, essv6733051, essv6666246, essv6812862, essv6674617, essv6725407, essv6902128, essv6916979, essv6882967, essv6932850, essv6950047, essv6784537, essv6835748, essv6761582, essv6682434, essv6792823
SamplesSSM022, SSM027, SSM082, SSM086, SSM091, SSM033, SSM084, SSM061, SSM040, SSM078, SSM088, SSM089, SSM031, SSM020, SSM016, SSM032, SSM024, SSM045, SSM067, SSM094, SSM097, SSM012, SSM093, SSM011, SSM029, SSM003, SSM095, SSM047, SSM034, SSM038, SSM046, SSM023, SSM079, SSM068, SSM044, SSM074, SSM075, SSM026, SSM014, SSM076, SSM070, SSM080
Known GenesRPN2
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2722385
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0

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