A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16144836



Internal ID6146652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14903291..14936014hg38UCSC Ensembl
Innerchr20:14903791..14935514hg38UCSC Ensembl
Outerchr20:14902291..14937014hg38UCSC Ensembl
chr20:14883937..14916660hg19UCSC Ensembl
Innerchr20:14884437..14916160hg19UCSC Ensembl
Outerchr20:14882937..14917660hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3832724
hg1932724
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645352
Supporting Variants
SamplesHG02691
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16144836
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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