A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642145



Internal ID7028915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32072577..32090935hg38UCSC Ensembl
chr18:29652540..29670898hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3818359
hg1918359
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15837751, essv15837747, essv15837746, essv15837752, essv15837749, essv15837750, essv15837748
SamplesHG01855, HG02384, HG02084, HG02165, HG01866, HG00662, NA18983
Known GenesRNF125
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642145
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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