A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556512



Internal ID18410902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48834522..48835367hg38UCSC Ensembl
Outerchr19:48834276..48835593hg38UCSC Ensembl
Innerchr19:49337779..49338624hg19UCSC Ensembl
Outerchr19:49337533..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 Variantsdgv226e215
Supporting Variantsessv9755259
Samples
Known GenesHSD17B14
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556512
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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