A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748703



Internal ID10329673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49491320..49492234hg38UCSC Ensembl
Outerchr14:49958038..49958952hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38915
hg19915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758417, essv6668349, essv6712721, essv6867507, essv6808209, essv6735362, essv6763550, essv6966255, essv6820038, essv6959744
SamplesSSM059, SSM027, SSM009, SSM062, SSM026, SSM089, SSM006, SSM078, SSM049, SSM030
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)esv2748703
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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