A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16144767



Internal ID5672052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14834364..14888675hg38UCSC Ensembl
Innerchr20:14834383..14888657hg38UCSC Ensembl
Outerchr20:14834346..14888694hg38UCSC Ensembl
chr20:14815010..14869321hg19UCSC Ensembl
Innerchr20:14815029..14869303hg19UCSC Ensembl
Outerchr20:14814992..14869340hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3854312
hg1954312
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645345
Supporting Variants
SamplesNA19077
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16144767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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