A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10930986



Internal ID511620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12867853..12872950hg38UCSC Ensembl
Innerchr3:12867853..12872950hg38UCSC Ensembl
Outerchr3:12867353..12873450hg38UCSC Ensembl
chr3:12909352..12914449hg19UCSC Ensembl
Innerchr3:12909352..12914449hg19UCSC Ensembl
Outerchr3:12908852..12914949hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg385098
hg195098
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595341
Supporting Variants
SamplesHG00182
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10930986
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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