A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934064



Internal ID6021550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74248221..74345257hg38UCSC Ensembl
chr18:71915456..72012492hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3897037
hg1997037
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643111
Supporting Variants
SamplesNA19434
Known GenesC18orf63, CYB5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934064
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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