A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449118



Internal ID15296067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209770184..209772382hg38UCSC Ensembl
Innerchr1:209771184..209771382hg38UCSC Ensembl
Outerchr1:209769184..209773382hg38UCSC Ensembl
chr1:209943529..209945727hg19UCSC Ensembl
Innerchr1:209944529..209944727hg19UCSC Ensembl
Outerchr1:209942529..209946727hg19UCSC Ensembl
chr1:208010152..208012350hg18UCSC Ensembl
Innerchr1:208011152..208011350hg18UCSC Ensembl
Outerchr1:208009152..208013350hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692115
SamplesNA19240
Known GenesTRAF3IP3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449118
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