A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16144529



Internal ID6146345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14692004..14895072hg38UCSC Ensembl
Innerchr20:14692024..14895052hg38UCSC Ensembl
Outerchr20:14691984..14895092hg38UCSC Ensembl
chr20:14672650..14875718hg19UCSC Ensembl
Innerchr20:14672670..14875698hg19UCSC Ensembl
Outerchr20:14672630..14875738hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38203069
hg19203069
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645326
Supporting Variants
SamplesNA18876
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16144529
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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