A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359602



Internal ID14859864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38140457..38142155hg38UCSC Ensembl
Innerchr3:38141155..38141457hg38UCSC Ensembl
Outerchr3:38139457..38143155hg38UCSC Ensembl
chr3:38181948..38183646hg19UCSC Ensembl
Innerchr3:38182646..38182948hg19UCSC Ensembl
Outerchr3:38180948..38184646hg19UCSC Ensembl
chr3:38156952..38158650hg18UCSC Ensembl
Innerchr3:38157952..38157650hg18UCSC Ensembl
Outerchr3:38155952..38159650hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694070
SamplesNA19239
Known GenesMYD88
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359602
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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