A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16144512



Internal ID1889476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14609532..14707584hg38UCSC Ensembl
Innerchr20:14609546..14707571hg38UCSC Ensembl
Outerchr20:14609519..14707598hg38UCSC Ensembl
chr20:14590178..14688230hg19UCSC Ensembl
Innerchr20:14590192..14688217hg19UCSC Ensembl
Outerchr20:14590165..14688244hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3898053
hg1998053
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645320
Supporting Variants
SamplesHG01777
Known GenesMACROD2, MACROD2-IT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16144512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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