A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641486



Internal ID7028260
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15772320, essv15772318, essv15772321, essv15772319, essv15772317
SamplesNA12004, HG00261, NA11843, HG01378, HG01437
Known GenesCOLEC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641486
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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