A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302730



Internal ID15149678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:15984104..15984199hg38UCSC Ensembl
Innerchr9:15984151..15984151hg38UCSC Ensembl
Outerchr9:15984004..15984299hg38UCSC Ensembl
chr9:15984102..15984197hg19UCSC Ensembl
Innerchr9:15984149..15984149hg19UCSC Ensembl
Outerchr9:15984002..15984297hg19UCSC Ensembl
chr9:15974102..15974197hg18UCSC Ensembl
Innerchr9:15974149..15974149hg18UCSC Ensembl
Outerchr9:15974002..15974297hg18UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg3896
hg1996
hg1896
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4285e59
Supporting Variantsessv7731887, essv7735664, essv7735305, essv7734953, essv7738553, essv7737510, essv7739038, essv7734845, essv7735446, essv7731979, essv7732576, essv7733476, essv7736051, essv7733984, essv7734160, essv7737054
SamplesNA18502, NA18507, NA18870, NA18547, NA19138, NA19238, NA12878, NA18956, NA18907, NA19225, NA18570, NA19108, NA19240, NA19093, NA12776, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302730
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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