A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402579



Internal ID15249541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52290696..52295394hg38UCSC Ensembl
Innerchr3:52291696..52294394hg38UCSC Ensembl
Outerchr3:52289696..52296394hg38UCSC Ensembl
chr3:52324712..52329410hg19UCSC Ensembl
Innerchr3:52325712..52328410hg19UCSC Ensembl
Outerchr3:52323712..52330410hg19UCSC Ensembl
chr3:52299752..52304450hg18UCSC Ensembl
Innerchr3:52300752..52303450hg18UCSC Ensembl
Outerchr3:52298752..52305450hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg384699
hg194699
hg184699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694097
SamplesNA19240
Known GenesGLYCTK, MIR135A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402579
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