A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310095



Internal ID14810360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107599834..107599835hg38UCSC Ensembl
Innerchr1:107599807..107599862hg38UCSC Ensembl
Outerchr1:107599806..107599863hg38UCSC Ensembl
chr1:108142456..108142457hg19UCSC Ensembl
Innerchr1:108142429..108142484hg19UCSC Ensembl
Outerchr1:108142428..108142485hg19UCSC Ensembl
chr1:107943979..107943980hg18UCSC Ensembl
Innerchr1:107944007..107943952hg18UCSC Ensembl
Outerchr1:107943951..107944008hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837376, essv7837071
SamplesNA19239, NA19240
Known GenesVAV3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310095
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