A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645352



Internal ID7032102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14903291..14936014hg38UCSC Ensembl
Innerchr20:14903791..14935514hg38UCSC Ensembl
Outerchr20:14902291..14937014hg38UCSC Ensembl
chr20:14883937..14916660hg19UCSC Ensembl
Innerchr20:14884437..14916160hg19UCSC Ensembl
Outerchr20:14882937..14917660hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3832724
hg1932724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16144841, essv16144839, essv16144844, essv16144835, essv16144838, essv16144843, essv16144834, essv16144842, essv16144836, essv16144837, essv16144840
SamplesNA20762, HG02691, HG03295, NA12761, HG03756, NA20767, NA19655, HG02694, HG01269, NA18876, HG01509
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645352
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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