A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642122



Internal ID7028892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31283834..31290238hg38UCSC Ensembl
chr18:28863797..28870201hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg386405
hg196405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15836664, essv15836663
SamplesHG01843, NA18949
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642122
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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