A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5485513



Internal ID8462916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32643239..32657645hg38UCSC Ensembl
Outerchr6:32642568..32658315hg38UCSC Ensembl
Innerchr6:32611016..32625422hg19UCSC Ensembl
Outerchr6:32610345..32626092hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3815748
hg1915748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672916
Supporting Variants
SamplesNA20786
Known GenesHLA-DQA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5485513
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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