A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645349



Internal ID7032099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14865963..14939614hg38UCSC Ensembl
Innerchr20:14865969..14939609hg38UCSC Ensembl
Outerchr20:14865958..14939620hg38UCSC Ensembl
chr20:14846609..14920260hg19UCSC Ensembl
Innerchr20:14846615..14920255hg19UCSC Ensembl
Outerchr20:14846604..14920266hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3873652
hg1973652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16144808, essv16144815, essv16144814, essv16144813, essv16144812, essv16144807, essv16144809, essv16144810, essv16144811
SamplesNA20762, HG02691, HG03295, HG04182, NA12761, HG03756, NA20767, HG02694, NA18876
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645349
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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