A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401219



Internal ID15248182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196742101..196742105hg38UCSC Ensembl
Innerchr3:196742089..196742117hg38UCSC Ensembl
Outerchr3:196742085..196742121hg38UCSC Ensembl
chr3:196468972..196468976hg19UCSC Ensembl
Innerchr3:196468960..196468988hg19UCSC Ensembl
Outerchr3:196468956..196468992hg19UCSC Ensembl
chr3:197953369..197953373hg18UCSC Ensembl
Innerchr3:197953385..197953357hg18UCSC Ensembl
Outerchr3:197953353..197953389hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864234, essv7864233
SamplesNA18520, NA18522
Known GenesPAK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401219
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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