A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1039020



Internal ID11855460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2811856..2811856hg38UCSC Ensembl
chr19:2811854..2811854hg19UCSC Ensembl
chr19:2762854..2762854hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38215
hg19215
hg18215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3803562
SamplesHuRef
Known GenesTHOP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1039020
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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