A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12525217



Internal ID5339017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121474233..121479334hg38UCSC Ensembl
Innerchr6:121474733..121478834hg38UCSC Ensembl
Outerchr6:121473233..121480334hg38UCSC Ensembl
chr6:121795379..121800480hg19UCSC Ensembl
Innerchr6:121795879..121799980hg19UCSC Ensembl
Outerchr6:121794379..121801480hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg385102
hg195102
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610590
Supporting Variants
SamplesNA18876
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12525217
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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