A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309338



Internal ID14809602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149191550..149191551hg38UCSC Ensembl
Innerchr3:149191523..149191578hg38UCSC Ensembl
Outerchr3:149191522..149191579hg38UCSC Ensembl
chr3:148909337..148909338hg19UCSC Ensembl
Innerchr3:148909310..148909365hg19UCSC Ensembl
Outerchr3:148909309..148909366hg19UCSC Ensembl
chr3:150392027..150392028hg18UCSC Ensembl
Innerchr3:150392055..150392000hg18UCSC Ensembl
Outerchr3:150391999..150392056hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837783, essv7838148
SamplesNA12878, NA12892
Known GenesCP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309338
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