A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642146



Internal ID6682227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32087436..32098167hg38UCSC Ensembl
chr18:29667399..29678130hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3810732
hg1910732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15837753, essv15837756, essv15837757, essv15837758, essv15837754, essv15837755
SamplesHG02165, HG01866, HG00662, HG02384, NA18983, HG01855
Known GenesRNF138
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642146
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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