A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747407



Internal ID9981691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:50495202..50500939hg38UCSC Ensembl
Outerchr13:51069338..51075075hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg385738
hg195738
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
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)esv2747407
Frequency
Sample Size96
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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