A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641487



Internal ID7028261
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv594e214
Supporting Variantsessv15772323, essv15772322
SamplesNA20896, HG01048
Known GenesCOLEC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641487
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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