A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601591



Internal ID6641846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101159937..101164099hg38UCSC Ensembl
Innerchr4:101159937..101164099hg38UCSC Ensembl
Outerchr4:101159851..101164294hg38UCSC Ensembl
chr4:102081094..102085256hg19UCSC Ensembl
Innerchr4:102081094..102085256hg19UCSC Ensembl
Outerchr4:102081008..102085451hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg384163
hg194163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11544850, essv11544857, essv11544854, essv11544863, essv11544859, essv11544851, essv11544861, essv11544853, essv11544862, essv11544856, essv11544852, essv11544858, essv11544860, essv11544855
SamplesHG03378, HG02836, HG03295, NA20346, NA19404, HG01628, HG02537, HG03136, HG02484, HG01530, NA19108, HG01375, NA18876, HG00255
Known GenesPPP3CA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601591
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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