A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645989



Internal ID6686049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48160513..48367072hg38UCSC Ensembl
chr20:46789256..46995815hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38206560
hg19206560
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16197593
SamplesHG02614
Known GenesLINC00494
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645989
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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