A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717724



Internal ID10301360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:534788..534841hg38UCSC Ensembl
Outerchr19:534788..534841hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863536
SamplesSSM088
Known GenesCDC34
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)esv2717724
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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