A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3327452



Internal ID15174436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129912412..129912417hg38UCSC Ensembl
Innerchr3:129912403..129912426hg38UCSC Ensembl
Outerchr3:129912398..129912431hg38UCSC Ensembl
chr3:129631255..129631260hg19UCSC Ensembl
Innerchr3:129631246..129631269hg19UCSC Ensembl
Outerchr3:129631241..129631274hg19UCSC Ensembl
chr3:131113945..131113950hg18UCSC Ensembl
Innerchr3:131113959..131113936hg18UCSC Ensembl
Outerchr3:131113931..131113964hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864184, essv7864185
SamplesNA11992, NA18520
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3327452
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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