A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16144806



Internal ID6146622
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645348
Supporting Variants
SamplesNA21105
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16144806
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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