A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645247



Internal ID7031997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:12173170..12301355hg38UCSC Ensembl
chr20:12153818..12282003hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38128186
hg19128186
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16142897
SamplesNA18501
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645247
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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