A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745117



Internal ID9979401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:117320391..117320718hg38UCSC Ensembl
Outerchr11:117191107..117191434hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927865, essv6940264, essv6779395, essv6765730, essv6681514, essv6897604, essv6752522, essv6920081, essv6760923, essv6953154, essv6749623, essv6873621, essv6724434, essv6746792, essv6876604, essv6970733, essv6898633, essv6938462, essv6970640, essv6959155, essv6735130, essv6771253, essv6743973, essv6755490, essv6819619, essv6842366, essv6741012, essv6977041, essv6912524, essv6668169, essv6695473, essv6936048, essv6834388, essv6758183, essv6768445, essv6771986, essv6908196, essv6879433, essv6737754, essv6931764, essv6965677, essv6857099, essv6763338, essv6716598, essv6710643, essv6737847
SamplesSSM059, SSM008, SSM027, SSM045, SSM064, SSM065, SSM087, SSM093, SSM050, SSM002, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM061, SSM029, SSM062, SSM026, SSM017, SSM019, SSM003, SSM067, SSM001, SSM033, SSM006, SSM020, SSM007, SSM015, SSM078, SSM053, SSM037, SSM022, SSM010, SSM091, SSM055, SSM025, SSM004, SSM099, SSM052, SSM049, SSM056, 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)esv2745117
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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