A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744695



Internal ID10325665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69706077..69709345hg38UCSC Ensembl
Outerchr11:69520845..69524113hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg383269
hg193269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819567, essv6857035, essv6720584, essv6812140, essv6684985, essv6737543, essv6904813, essv6944814, essv6775607, essv6702336, essv6948974, essv6891176, essv6864820, essv6804798, essv6712890, essv6677703, essv6866999, essv6900561, essv6898353, essv6938107, essv6698681, essv6976959, essv6746757, essv6970385, essv6927835, essv6728230, essv6879408, essv6953110, essv6827601, essv6970685, essv6831208, essv6907930, essv6771960, essv6681475, essv6716690, essv6714042, essv6691503, essv6735107, essv6706114, essv6752492, essv6823534, essv6737825, essv6803414, essv6815371, essv6920044, essv6783463, essv6924220, essv6897580
SamplesSSM100, SSM036, SSM024, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM042, SSM002, SSM057, SSM023, SSM028, SSM018, SSM029, SSM089, SSM017, SSM019, SSM032, SSM003, SSM044, SSM001, SSM033, SSM066, SSM068, SSM081, SSM040, SSM007, SSM078, SSM080, SSM077, SSM076, SSM055, SSM025, SSM034, SSM004, SSM099, SSM043, SSM049, 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)esv2744695
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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