A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16144830



Internal ID6146646
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645351
Supporting Variants
SamplesNA12761
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16144830
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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