A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642247



Internal ID6682328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37554210..37562164hg38UCSC Ensembl
chr18:35134173..35142127hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg387955
hg197955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15842499, essv15842500
SamplesHG02156, HG01893
Known GenesCELF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642247
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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