A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309593



Internal ID15156544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122726895..122726896hg38UCSC Ensembl
Innerchr3:122726865..122726926hg38UCSC Ensembl
Outerchr3:122726864..122726927hg38UCSC Ensembl
chr3:122445742..122445743hg19UCSC Ensembl
Innerchr3:122445712..122445773hg19UCSC Ensembl
Outerchr3:122445711..122445774hg19UCSC Ensembl
chr3:123928432..123928433hg18UCSC Ensembl
Innerchr3:123928463..123928402hg18UCSC Ensembl
Outerchr3:123928401..123928464hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38138
hg19138
hg18138
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838310, essv7838034
SamplesNA12891, NA12878
Known GenesPARP14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309593
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