A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3366277



Internal ID14866537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:322452..324750hg38UCSC Ensembl
Innerchr19:323452..323750hg38UCSC Ensembl
Outerchr19:321452..325750hg38UCSC Ensembl
chr19:322452..324750hg19UCSC Ensembl
Innerchr19:323452..323750hg19UCSC Ensembl
Outerchr19:321452..325750hg19UCSC Ensembl
chr19:273452..275750hg18UCSC Ensembl
Innerchr19:274452..274750hg18UCSC Ensembl
Outerchr19:272452..276750hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1964e59
Supporting Variantsessv8691450
SamplesNA19240
Known GenesMIER2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3366277
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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