A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748912



Internal ID10329882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:79186945..79188051hg38UCSC Ensembl
Outerchr14:79653288..79654394hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761177, essv6755805, essv6977784, essv6741343, essv6744234, essv6758435, essv6774886, essv6857685, essv6920514, essv6862745, essv6808409, essv6867530, essv6752777, essv6820063, essv6775982, essv6966288, essv6765946, essv6910462, essv6936466, essv6724772, essv6876900, essv6735375, essv6738106
SamplesSSM059, SSM008, SSM027, SSM045, SSM087, SSM009, SSM050, SSM088, SSM002, SSM057, SSM058, SSM092, SSM021, SSM061, SSM029, SSM089, SSM017, SSM066, SSM078, SSM053, SSM052, SSM049, SSM063
Known GenesNRXN3
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)esv2748912
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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