A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7749760



Internal ID14810208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141591793..141591794hg38UCSC Ensembl
Innerchr3:141591732..141591855hg38UCSC Ensembl
Outerchr3:141591731..141591856hg38UCSC Ensembl
chr3:141310635..141310636hg19UCSC Ensembl
Innerchr3:141310574..141310697hg19UCSC Ensembl
Outerchr3:141310573..141310698hg19UCSC Ensembl
chr3:142793325..142793326hg18UCSC Ensembl
Innerchr3:142793387..142793264hg18UCSC Ensembl
Outerchr3:142793263..142793388hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307375
Supporting Variants
SamplesNA19093
Known GenesRASA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7749760
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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