A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302643



Internal ID15149591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:15984093..15984194hg38UCSC Ensembl
Innerchr9:15984143..15984143hg38UCSC Ensembl
Outerchr9:15983993..15984294hg38UCSC Ensembl
chr9:15984091..15984192hg19UCSC Ensembl
Innerchr9:15984141..15984141hg19UCSC Ensembl
Outerchr9:15983991..15984292hg19UCSC Ensembl
chr9:15974091..15974192hg18UCSC Ensembl
Innerchr9:15974141..15974141hg18UCSC Ensembl
Outerchr9:15973991..15974292hg18UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg38102
hg19102
hg18102
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4285e59
Supporting Variantsessv7731599, essv7731480, essv7730890
SamplesNA19238, NA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302643
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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