A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646020



Internal ID7032765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49691035..49700167hg38UCSC Ensembl
chr20:48307572..48316704hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg389133
hg199133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198894
SamplesHG01197
Known GenesB4GALT5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646020
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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