A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645351



Internal ID7032101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14891551..14955534hg38UCSC Ensembl
Innerchr20:14891589..14955497hg38UCSC Ensembl
Outerchr20:14891514..14955572hg38UCSC Ensembl
chr20:14872197..14936180hg19UCSC Ensembl
Innerchr20:14872235..14936143hg19UCSC Ensembl
Outerchr20:14872160..14936218hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3863984
hg1963984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16144829, essv16144831, essv16144830, essv16144833, essv16144827, essv16144832, essv16144828
SamplesNA20762, HG03295, NA12761, HG03756, NA20767, HG02694, NA18876
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645351
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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