A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10227579



Internal ID5265771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:189567196..189648578hg38UCSC Ensembl
chr1:189536326..189617708hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3881383
hg1981383
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588267
Supporting Variants
SamplesNA18640
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10227579
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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