A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370089



Internal ID14870348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16501559..16501570hg38UCSC Ensembl
Innerchr19:16501561..16501568hg38UCSC Ensembl
Outerchr19:16501557..16501572hg38UCSC Ensembl
chr19:16612370..16612381hg19UCSC Ensembl
Innerchr19:16612372..16612379hg19UCSC Ensembl
Outerchr19:16612368..16612383hg19UCSC Ensembl
chr19:16473370..16473381hg18UCSC Ensembl
Innerchr19:16473372..16473379hg18UCSC Ensembl
Outerchr19:16473368..16473383hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866082
SamplesNA12005
Known GenesC19orf44
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370089
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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