A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416793



Internal ID15263751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186125369..186125867hg38UCSC Ensembl
Innerchr3:186125368..186125868hg38UCSC Ensembl
Outerchr3:186124369..186126867hg38UCSC Ensembl
chr3:185843158..185843656hg19UCSC Ensembl
Innerchr3:185843157..185843657hg19UCSC Ensembl
Outerchr3:185842158..185844656hg19UCSC Ensembl
chr3:187325852..187326350hg18UCSC Ensembl
Innerchr3:187326351..187325851hg18UCSC Ensembl
Outerchr3:187324852..187327350hg18UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693899
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416793
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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