A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744066



Internal ID10325036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:5738832..5741140hg38UCSC Ensembl
Outerchr11:5760062..5762370hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382309
hg192309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702251, essv6765664, essv6771900, essv6884956, essv6684913, essv6948887, essv6864086, essv6716617, essv6976824, essv6731947, essv6743894, essv6681418, essv6897643, essv6746690, essv6823450, essv6779275, essv6800020, essv6695366, essv6712833, essv6866901, essv6720518, essv6775554, essv6803350, essv6668106, essv6763273, essv6953038, essv6891101, essv6856919, essv6815308, essv6735063, essv6752436, essv6698626, essv6709340, essv6879355, essv6876517, essv6912415, essv6691440, essv6897512, essv6812083, essv6834722, essv6915966, essv6819484, essv6965490, essv6919982, essv6970606, essv6787586, essv6706051, essv6873529, essv6850886, essv6795853, essv6740905, essv6887861, essv6882181, essv6838448, essv6931645, essv6809224, essv6710265, essv6770253, essv6672863, essv6791675, essv6724325, essv6845813, essv6709977, essv6900497, essv6736976, essv6686020
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM073, SSM093, SSM042, SSM041, SSM057, SSM028, SSM092, SSM047, SSM069, SSM029, SSM096, SSM062, SSM089, SSM017, SSM094, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM052, SSM049, SSM030, SSM063, SSM012
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)esv2744066
Frequency
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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