A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556030



Internal ID18410420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11406870..11407826hg38UCSC Ensembl
Outerchr19:11406734..11407997hg38UCSC Ensembl
Innerchr19:11517546..11518502hg19UCSC Ensembl
Outerchr19:11517410..11518673hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381264
hg191264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754777
Samples
Known GenesRGL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556030
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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