A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745190



Internal ID9979474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124959752..124960845hg38UCSC Ensembl
Outerchr11:124829648..124830741hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6737850, essv6851075, essv6936059, essv6741016, essv6758186, essv6977054, essv6879436, essv6752525, essv6749628, essv6857111, essv6760926, essv6668174, essv6735135, essv6710665, essv6743980, essv6673067, essv6765734, essv6959164, essv6755495, essv6965684, essv6819628, essv6862305, essv6763347
SamplesSSM027, SSM053, SSM086, SSM006, SSM061, SSM078, SSM088, SSM031, SSM057, SSM050, SSM062, SSM093, SSM056, SSM029, SSM030, SSM021, SSM063, SSM087, SSM052, SSM026, SSM049, SSM058, SSM059
Known GenesCCDC15
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)esv2745190
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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