A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5e22



Internal ID18985189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48342356..48342409hg38UCSC Ensembl
chr19:48845613..48845666hg19UCSC Ensembl
chr19:53537425..53537478hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv1423504, esv1778763
SamplesHuRef
Known GenesTMEM143
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)dgv5e22
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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