A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556469



Internal ID18757545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45775491..45776302hg38UCSC Ensembl
Outerchr19:45775269..45776527hg38UCSC Ensembl
Innerchr19:46278749..46279560hg19UCSC Ensembl
Outerchr19:46278527..46279785hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755216
Samples
Known GenesDMPK
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556469
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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