A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586096



Internal ID6626409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54590783..54598454hg38UCSC Ensembl
chr1:55056456..55064127hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg387672
hg197672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9932438, essv9932437
SamplesNA21133, HG01396
Known GenesACOT11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586096
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer