A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10946129



Internal ID5624174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:20788658..20793747hg38UCSC Ensembl
Innerchr3:20788696..20793709hg38UCSC Ensembl
Outerchr3:20788620..20793785hg38UCSC Ensembl
chr3:20830150..20835239hg19UCSC Ensembl
Innerchr3:20830188..20835201hg19UCSC Ensembl
Outerchr3:20830112..20835277hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg385090
hg195090
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595487
Supporting Variants
SamplesNA19055
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10946129
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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