A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15931528



Internal ID6358510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70752698..70772684hg38UCSC Ensembl
chr18:68419934..68439920hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3819987
hg1919987
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642996
Supporting Variants
SamplesNA20289
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15931528
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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