A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15772323



Internal ID6815552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:352246..550862hg38UCSC Ensembl
chr18:352246..550862hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38198617
hg19198617
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641487
Supporting Variants
SamplesNA20896
Known GenesCOLEC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15772323
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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