A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556490



Internal ID18410880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47147310..47148859hg38UCSC Ensembl
Outerchr19:47147303..47148868hg38UCSC Ensembl
Innerchr19:47650567..47652116hg19UCSC Ensembl
Outerchr19:47650560..47652125hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381566
hg191566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755237
Samples
Known GenesSAE1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556490
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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