A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934232



Internal ID1700216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75545074..75560152hg38UCSC Ensembl
chr18:73257029..73272107hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3815079
hg1915079
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643139
Supporting Variants
SamplesHG01578
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934232
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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