A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645907



Internal ID7032655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44269860..44297596hg38UCSC Ensembl
chr20:42898500..42926236hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3827737
hg1927737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16193800
SamplesHG01108
Known GenesGDAP1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645907
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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