A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719507



Internal ID10303143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:171292095..171292401hg38UCSC Ensembl
Outerchr1:171261234..171261540hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6697078, essv6804513
SamplesSSM038, SSM074
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)esv2719507
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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