A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596221



Internal ID6983538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56948807..56952278hg38UCSC Ensembl
Innerchr3:56948835..56952250hg38UCSC Ensembl
Outerchr3:56948779..56952306hg38UCSC Ensembl
chr3:56982835..56986306hg19UCSC Ensembl
Innerchr3:56982863..56986278hg19UCSC Ensembl
Outerchr3:56982807..56986334hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg383472
hg193472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11020069, essv11020055, essv11020067, essv11020060, essv11020064, essv11020058, essv11020070, essv11020056, essv11020066, essv11020053, essv11020052, essv11020059, essv11020051, essv11020062, essv11020054, essv11020071, essv11020063, essv11020061, essv11020068, essv11020065, essv11020057
SamplesHG02944, HG03518, HG03572, HG03091, NA19041, NA20278, NA19159, HG03267, HG03058, NA19027, HG02442, HG02537, HG03202, NA19206, NA20362, NA19428, NA19328, HG01912, NA19129, HG03072, HG02284
Known GenesARHGEF3, ARHGEF3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596221
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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