A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351443



Internal ID14851707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50091483..50094281hg38UCSC Ensembl
Innerchr19:50092483..50093281hg38UCSC Ensembl
Outerchr19:50090483..50095281hg38UCSC Ensembl
chr19:50594740..50597538hg19UCSC Ensembl
Innerchr19:50595740..50596538hg19UCSC Ensembl
Outerchr19:50593740..50598538hg19UCSC Ensembl
chr19:55286552..55289350hg18UCSC Ensembl
Innerchr19:55287552..55288350hg18UCSC Ensembl
Outerchr19:55285552..55290350hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691606
SamplesNA19239
Known GenesSNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351443
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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