A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718279



Internal ID10301915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:17592954..17593477hg38UCSC Ensembl
Outerchr19:17703763..17704286hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693843, essv6967458, essv6807128, essv6921322, essv6947473, essv6763999
SamplesSSM027, SSM074, SSM062, SSM017, SSM003, SSM005
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)esv2718279
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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