A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2747407

Internal ID9981691
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:50495202..50500939hg38UCSC Ensembl
Outerchr13:51069338..51075075hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945119, essv6673402, essv6972540, essv6744139, essv6819892, essv6812334, essv6831466, essv6681738, essv6928059, essv6724645, essv6677970, essv6761086, essv6709634, essv6891411, essv6838767, essv6876794, essv6746963, essv6688408, essv6970996, essv6768633, essv6953397, essv6735300, essv6807276, essv6851456, essv6685215, essv6936319, essv6796179, essv6882441, essv6765863, essv6787914, essv6873803, essv6924500, essv6688254, essv6803615, essv6806495, essv6732282, essv6775850, essv6783723, essv6716952, essv6909023, essv6792006, essv6912768, essv6738014, essv6752681, essv6920370, essv6857454, essv6977518, essv6867109, essv6949245, essv6966054, essv6846077, essv6842601, essv6909695, essv6900787, essv6758332, essv6905051, essv6894793, essv6827883, essv6959533, essv6755695, essv6916279, essv6749797, essv6695728, essv6713144, essv6772228, essv6879589, essv6885188, essv6773731, essv6940511, essv6867352, essv6836031, essv6888112, essv6728477, essv6720835, essv6691737, essv6900741, essv6932019, essv6897756, essv6823790, essv6741219, essv6763492, essv6809504, essv6815593, essv6870834, essv6779609, essv6702612, essv6940429, essv6706357, essv6862574, essv6712143, essv6732265, essv6668302, essv6698867, essv6739609, essv6835021
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known Genes
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2747407
Sample Size96
Observed Gain0
Observed Loss95
Observed Complex0

Hosted by The Centre for Applied Genomics
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