A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603472



Internal ID6990503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184811261..184820348hg38UCSC Ensembl
chr4:185732415..185741502hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg389088
hg199088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11734112, essv11734111
SamplesHG02278, HG00375
Known GenesACSL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603472
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