A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3361020



Internal ID14861281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:602707..603189hg38UCSC Ensembl
Innerchr19:602707..603189hg38UCSC Ensembl
Outerchr19:602472..603502hg38UCSC Ensembl
chr19:602707..603189hg19UCSC Ensembl
Innerchr19:602707..603189hg19UCSC Ensembl
Outerchr19:602472..603502hg19UCSC Ensembl
chr19:553707..554189hg18UCSC Ensembl
Innerchr19:553707..554189hg18UCSC Ensembl
Outerchr19:553472..554502hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38483
hg19483
hg18483
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652022
SamplesNA19240
Known GenesHCN2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3361020
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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