A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646081



Internal ID7032826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52066420..52080655hg38UCSC Ensembl
chr20:50682959..50697194hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3814236
hg1914236
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16200292, essv16200305, essv16200303, essv16200310, essv16200306, essv16200309, essv16200287, essv16200296, essv16200297, essv16200301, essv16200311, essv16200291, essv16200298, essv16200286, essv16200294, essv16200304, essv16200289, essv16200307, essv16200300, essv16200295, essv16200293, essv16200290, essv16200288, essv16200302, essv16200308, essv16200299
SamplesHG02614, NA19664, HG03199, HG03436, HG02811, NA19023, NA19917, NA19137, NA19317, NA20318, HG03169, HG02968, HG02537, HG02577, HG01241, HG01890, NA19035, NA19331, NA19334, HG01494, HG01108, NA19818, HG01912, HG02679, NA19312, HG02006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646081
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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