A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306961



Internal ID15153909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146279864..146279865hg38UCSC Ensembl
Innerchr3:146279847..146279882hg38UCSC Ensembl
Outerchr3:146279846..146279883hg38UCSC Ensembl
chr3:145997651..145997652hg19UCSC Ensembl
Innerchr3:145997634..145997669hg19UCSC Ensembl
Outerchr3:145997633..145997670hg19UCSC Ensembl
chr3:147480341..147480342hg18UCSC Ensembl
Innerchr3:147480359..147480324hg18UCSC Ensembl
Outerchr3:147480323..147480360hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38233
hg19233
hg18233
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7793141, essv7799181, essv7818522, essv7812682, essv7805735, essv7829892, essv7811290, essv7797106
SamplesNA18507, NA18870, NA18489, NA12003, NA18871, NA18499, NA19257, NA19143
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306961
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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