A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589565



Internal ID6976893
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10381891
SamplesHG03127
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589565
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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