A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306071



Internal ID14806333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100461107..100461108hg38UCSC Ensembl
Innerchr9:100461089..100461126hg38UCSC Ensembl
Outerchr9:100461088..100461127hg38UCSC Ensembl
chr9:103223389..103223390hg19UCSC Ensembl
Innerchr9:103223371..103223408hg19UCSC Ensembl
Outerchr9:103223370..103223409hg19UCSC Ensembl
chr9:102263210..102263211hg18UCSC Ensembl
Innerchr9:102263229..102263192hg18UCSC Ensembl
Outerchr9:102263191..102263230hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7791294, essv7834947, essv7822186, essv7796423, essv7824168, essv7780218, essv7775726, essv7786611, essv7836169, essv7822698, essv7820863, essv7831234, essv7833102, essv7776360, essv7772951, essv7770538, essv7783891, essv7822086, essv7790345, essv7816904, essv7778035
SamplesNA11829, NA18959, NA07357, NA18940, NA18550, NA12891, NA18558, NA18547, NA18571, NA12815, NA18951, NA12878, NA18572, NA18948, NA19114, NA19099, NA18555, NA12043, NA12006, NA18562, NA18577
Known GenesMSANTD3-TMEFF1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306071
Frequency
Sample Size185
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer