A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747480



Internal ID10328450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:58470599..58470932hg38UCSC Ensembl
Outerchr13:59044733..59045066hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867165, essv6894799, essv6677974, essv6724651, essv6688414, essv6673407, essv6897762, essv6720845, essv6916288, essv6838773, essv6932024, essv6732290, essv6909030, essv6882447, essv6940517, essv6862583, essv6775857, essv6819903, essv6792011, essv6912772, essv6831471, essv6812337
SamplesSSM083, SSM045, SSM011, SSM088, SSM047, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM066, SSM081, SSM020, SSM015, SSM078, SSM016, SSM076, SSM022, SSM070, SSM099, SSM098
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)esv2747480
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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