A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589214



Internal ID6972149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236347473..236352844hg38UCSC Ensembl
Innerchr1:236347583..236352764hg38UCSC Ensembl
Outerchr1:236347309..236353008hg38UCSC Ensembl
chr1:236510773..236516144hg19UCSC Ensembl
Innerchr1:236510883..236516064hg19UCSC Ensembl
Outerchr1:236510609..236516308hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg385372
hg195372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10334904, essv10334905, essv10334909, essv10334907, essv10334910, essv10334911, essv10334908, essv10334906
SamplesHG04210, NA21128, NA18962, NA20889, HG03787, NA20870, NA20897, HG03955
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589214
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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