A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556145



Internal ID18410535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:19147216..19147478hg38UCSC Ensembl
Outerchr19:19147168..19147525hg38UCSC Ensembl
Innerchr19:19258025..19258287hg19UCSC Ensembl
Outerchr19:19257977..19258334hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754892
Samples
Known GenesMEF2B, MEF2BNB-MEF2B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556145
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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