A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15940304



Internal ID1844123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76692356..76763687hg38UCSC Ensembl
chr18:74404312..74475643hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3871332
hg1971332
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643184
Supporting Variants
SamplesHG01709
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15940304
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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