A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645251



Internal ID7032001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:12303288..12306636hg38UCSC Ensembl
chr20:12283936..12287284hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg383349
hg193349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16142903, essv16142904, essv16142902, essv16142905
SamplesHG03963, HG02493, NA18501, HG02774
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645251
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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