A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642438



Internal ID7029208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46642832..46684747hg38UCSC Ensembl
chr18:44222795..44264710hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3841916
hg1941916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15857864, essv15857863, essv15857862, essv15857865
SamplesHG02562, NA19235, HG03461, NA19147
Known GenesLOXHD1, ST8SIA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642438
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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