A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345543



Internal ID14845810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48821483..48823281hg38UCSC Ensembl
Innerchr19:48822281..48822483hg38UCSC Ensembl
Outerchr19:48820483..48824281hg38UCSC Ensembl
chr19:49324740..49326538hg19UCSC Ensembl
Innerchr19:49325538..49325740hg19UCSC Ensembl
Outerchr19:49323740..49327538hg19UCSC Ensembl
chr19:54016552..54018350hg18UCSC Ensembl
Innerchr19:54017552..54017350hg18UCSC Ensembl
Outerchr19:54015552..54019350hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2019e59
Supporting Variantsessv8691596
SamplesNA19239
Known GenesHSD17B14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345543
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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