A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12215988



Internal ID5480867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:20241028..20243046hg38UCSC Ensembl
Innerchr6:20241034..20243040hg38UCSC Ensembl
Outerchr6:20241022..20243052hg38UCSC Ensembl
chr6:20241259..20243277hg19UCSC Ensembl
Innerchr6:20241265..20243271hg19UCSC Ensembl
Outerchr6:20241253..20243283hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382019
hg192019
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608289
Supporting Variants
SamplesNA18977
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12215988
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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