A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992383



Internal ID7062109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:17697990..17702412hg38UCSC Ensembl
Outerchr19:17808799..17813221hg19UCSC Ensembl
Outerchr19:17669799..17674221hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg384423
hg194423
hg184423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564973
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992383
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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