A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11160789



Internal ID2121259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138789855..138794543hg38UCSC Ensembl
Innerchr3:138789899..138794500hg38UCSC Ensembl
Outerchr3:138789812..138794587hg38UCSC Ensembl
chr3:138508697..138513385hg19UCSC Ensembl
Innerchr3:138508741..138513342hg19UCSC Ensembl
Outerchr3:138508654..138513429hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg384689
hg194689
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597922
Supporting Variants
SamplesHG01926
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11160789
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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