A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386006



Internal ID14886289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:601152..603550hg38UCSC Ensembl
Innerchr6:602152..602550hg38UCSC Ensembl
Outerchr6:600152..604550hg38UCSC Ensembl
chr6:601152..603550hg19UCSC Ensembl
Innerchr6:602152..602550hg19UCSC Ensembl
Outerchr6:600152..604550hg19UCSC Ensembl
chr6:546152..548550hg18UCSC Ensembl
Innerchr6:547152..547550hg18UCSC Ensembl
Outerchr6:545152..549550hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695317
SamplesNA12878
Known GenesEXOC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386006
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