A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748301



Internal ID10329271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113505947..113506684hg38UCSC Ensembl
Outerchr13:114160262..114160999hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38738
hg19738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959685, essv6835094, essv6681823, essv6717044, essv6673555, essv6924575, essv6706420, essv6688733, essv6851585, essv6916337, essv6747025, essv6876850, essv6800468, essv6713208, essv6732359, essv6755751
SamplesSSM042, SSM058, SSM092, SSM047, SSM018, SSM026, SSM031, SSM086, SSM033, SSM040, SSM072, SSM082, SSM016, SSM005, SSM055, SSM043
Known GenesTMCO3
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)esv2748301
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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