A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731895



Internal ID9966213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6055404..6055896hg38UCSC Ensembl
Outerchr10:6097367..6097859hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38493
hg19493
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, essv6705895, essv6695162, 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
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2731895
Frequency
Sample Size96
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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