A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389211



Internal ID14889492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107723394..107723793hg38UCSC Ensembl
Innerchr1:107723393..107723794hg38UCSC Ensembl
Outerchr1:107723284..107723913hg38UCSC Ensembl
chr1:108266016..108266415hg19UCSC Ensembl
Innerchr1:108266015..108266416hg19UCSC Ensembl
Outerchr1:108265906..108266535hg19UCSC Ensembl
chr1:108067539..108067938hg18UCSC Ensembl
Innerchr1:108067939..108067538hg18UCSC Ensembl
Outerchr1:108067429..108068058hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38400
hg19400
hg18400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808878
SamplesNA12878
Known GenesVAV3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389211
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