A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642406



Internal ID6682487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45224520..45229969hg38UCSC Ensembl
Innerchr18:45224520..45229969hg38UCSC Ensembl
Outerchr18:45224375..45230086hg38UCSC Ensembl
chr18:42804485..42809934hg19UCSC Ensembl
Innerchr18:42804485..42809934hg19UCSC Ensembl
Outerchr18:42804340..42810051hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg385450
hg195450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15856932, essv15856934, essv15856933
SamplesHG02888, HG03485, HG02855
Known GenesSLC14A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642406
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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