A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589061



Internal ID6976478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228890947..228891969hg38UCSC Ensembl
Innerchr1:228890989..228891928hg38UCSC Ensembl
Outerchr1:228890906..228892011hg38UCSC Ensembl
chr1:229026694..229027716hg19UCSC Ensembl
Innerchr1:229026736..229027675hg19UCSC Ensembl
Outerchr1:229026653..229027758hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10314021, essv10314019, essv10314018, essv10314017, essv10314022, essv10314016, essv10314020, essv10314023
SamplesHG02050, HG02153, HG01170, HG01870, HG02188, HG00620, HG00478, HG01028
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589061
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