A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15772320



Internal ID4772433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:352246..550862hg38UCSC Ensembl
chr18:352246..550862hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38198617
hg19198617
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641486
Supporting Variants
SamplesNA11843
Known GenesCOLEC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15772320
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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