A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2731895

Internal ID9966213
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6055404..6055896hg38UCSC Ensembl
Outerchr10:6097367..6097859hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906163, essv6856636, essv6672575, essv6845673, essv6834583, essv6727985, essv6716423, essv6939968, essv6873425, essv6958657, essv6884851, essv6787394, essv6900366, essv6948701, essv6976477, essv6720346, essv6882061, essv6688004, essv6806117, essv6861939, essv6771732, essv6702069, essv6749413, essv6795671, essv6768743, essv6731762, essv6912248, essv6908498, essv6791490, essv6935739, essv6815155, essv6944520, essv6887731, essv6811953, essv6842105, essv6895998, essv6779114, essv6712702, essv6827341, essv6832354, essv6838296, essv6919794, essv6691304, essv6681261, essv6709211, essv6809108, essv6695162, essv6705895, essv6965194, essv6830979, essv6850612, essv6862786, essv6823291, essv6783183, essv6763161, essv6936085, essv6904588, essv6743764, essv6735721, essv6915833, essv6879239, essv6677471, essv6684976, essv6894352, essv6876396, essv6897378, essv6799857, essv6931452, essv6803239, essv6866688, essv6768232, essv6890958, essv6819254, essv6684781, essv6746561, essv6923955, essv6752308, essv6870471, essv6927628, essv6698510
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM036, SSM055, SSM091, SSM033, SSM084, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM072, SSM020, SSM071, SSM016, SSM057, SSM032, SSM039, SSM024, SSM067, SSM094, SSM083, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM011, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM068, SSM044, SSM074, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM081, SSM070, SSM080
Known GenesIL2RA
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2731895
Sample Size96
Observed Gain0
Observed Loss80
Observed Complex0

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