A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10208549



Internal ID6475644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183445593..183446274hg38UCSC Ensembl
Innerchr1:183445593..183446274hg38UCSC Ensembl
Outerchr1:183445442..183446466hg38UCSC Ensembl
chr1:183414728..183415409hg19UCSC Ensembl
Innerchr1:183414728..183415409hg19UCSC Ensembl
Outerchr1:183414577..183415601hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588113
Supporting Variants
SamplesNA20522
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10208549
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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