A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15936291



Internal ID5850072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76007095..76008040hg38UCSC Ensembl
Innerchr18:76007192..76007929hg38UCSC Ensembl
Outerchr18:76006991..76008144hg38UCSC Ensembl
chr18:73719050..73719995hg19UCSC Ensembl
Innerchr18:73719147..73719884hg19UCSC Ensembl
Outerchr18:73718946..73720099hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38946
hg19946
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643156
Supporting Variants
SamplesNA19223
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15936291
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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