A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15917541



Internal ID4607503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:67010867..67069342hg38UCSC Ensembl
chr18:64678104..64736579hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3858476
hg1958476
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642887
Supporting Variants
SamplesHG04141
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15917541
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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