A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691417



Internal ID13708213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18294742..18296440hg38UCSC Ensembl
Innerchr19:18295440..18295742hg38UCSC Ensembl
Outerchr19:18293742..18297440hg38UCSC Ensembl
chr19:18405552..18407250hg19UCSC Ensembl
Innerchr19:18406250..18406552hg19UCSC Ensembl
Outerchr19:18404552..18408250hg19UCSC Ensembl
chr19:18266552..18268250hg18UCSC Ensembl
Innerchr19:18267552..18267250hg18UCSC Ensembl
Outerchr19:18265552..18269250hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450606
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691417
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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