A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5440724



Internal ID9224999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9784203..9793241hg38UCSC Ensembl
chr18:9784200..9793238hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg389039
hg199039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661546
Supporting Variants
SamplesNA11843
Known GenesRAB31
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5440724
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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