A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv226e215



Internal ID19010017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48834276..48835593hg38UCSC Ensembl
chr19:49337533..49338850hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381318
hg191318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3556512, esv3556513
Samples
Known GenesHSD17B14
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv226e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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