A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10381891



Internal ID3539337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248685260..248686783hg38UCSC Ensembl
Innerchr1:248685260..248686783hg38UCSC Ensembl
Outerchr1:248685138..248686979hg38UCSC Ensembl
chr1:248848561..248850084hg19UCSC Ensembl
Innerchr1:248848561..248850084hg19UCSC Ensembl
Outerchr1:248848439..248850280hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381524
hg191524
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589565
Supporting Variants
SamplesHG03127
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10381891
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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