A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603464



Internal ID6643718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184668168..184673503hg38UCSC Ensembl
Innerchr4:184668174..184673498hg38UCSC Ensembl
Outerchr4:184668163..184673509hg38UCSC Ensembl
chr4:185589322..185594657hg19UCSC Ensembl
Innerchr4:185589328..185594652hg19UCSC Ensembl
Outerchr4:185589317..185594663hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385336
hg195336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11733392, essv11733391
SamplesNA19917, HG02682
Known GenesPRIMPOL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603464
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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