A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11155350



Internal ID1026946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134091557..134093136hg38UCSC Ensembl
Innerchr3:134091575..134093119hg38UCSC Ensembl
Outerchr3:134091540..134093154hg38UCSC Ensembl
chr3:133810401..133811980hg19UCSC Ensembl
Innerchr3:133810419..133811963hg19UCSC Ensembl
Outerchr3:133810384..133811998hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg381580
hg191580
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597850
Supporting Variants
SamplesHG00650
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11155350
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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