A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745003



Internal ID10325973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102880312..102882172hg38UCSC Ensembl
Outerchr11:102751042..102752902hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg381861
hg191861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765724, essv6809307, essv6681504, essv6809306, essv6685010, essv6688219, essv6834288, essv6819603, essv6804998, essv6949004, essv6977012, essv6862288, essv6806313, essv6715931, essv6867035, essv6758174, essv6812165, essv6970551, essv6891205, essv6970721, essv6741001, essv6882269, essv6851050, essv6831238, essv6791778, essv6677736, essv6845899, essv6771198, essv6898553, essv6706141, essv6885026, essv6938340, essv6876593
SamplesSSM059, SSM008, SSM024, SSM075, SSM097, SSM009, SSM074, SSM088, SSM028, SSM092, SSM029, SSM089, SSM035, SSM094, SSM032, SSM003, SSM001, SSM086, SSM033, SSM085, SSM081, SSM040, SSM078, SSM076, SSM010, SSM070, SSM095, SSM034, SSM004, SSM052, 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)esv2745003
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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