A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718431



Internal ID10302067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30062273..30062785hg38UCSC Ensembl
Outerchr19:30553180..30553692hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917122
SamplesSSM016
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)esv2718431
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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