A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644956



Internal ID6685019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:405365..446917hg38UCSC Ensembl
chr20:386009..427561hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3841553
hg1941553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16107601
SamplesNA18617
Known GenesRBCK1, TBC1D20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644956
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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