A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645348



Internal ID7032098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14861998..14910472hg38UCSC Ensembl
Innerchr20:14862057..14910414hg38UCSC Ensembl
Outerchr20:14861940..14910531hg38UCSC Ensembl
chr20:14842644..14891118hg19UCSC Ensembl
Innerchr20:14842703..14891060hg19UCSC Ensembl
Outerchr20:14842586..14891177hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3848475
hg1948475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16144806, essv16144805, essv16144800, essv16144804, essv16144795, essv16144798, essv16144802, essv16144797, essv16144801, essv16144796, essv16144799, essv16144803, essv16144794
SamplesNA20762, HG02691, HG03295, NA20846, HG04182, NA21105, NA19077, HG03756, NA20767, NA20527, HG00672, HG02694, NA18876
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645348
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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