A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16144506



Internal ID1787538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14553306..14560304hg38UCSC Ensembl
Innerchr20:14553306..14560304hg38UCSC Ensembl
Outerchr20:14553065..14560533hg38UCSC Ensembl
chr20:14533952..14540950hg19UCSC Ensembl
Innerchr20:14533952..14540950hg19UCSC Ensembl
Outerchr20:14533711..14541179hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg386999
hg196999
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645318
Supporting Variants
SamplesHG01670
Known GenesMACROD2, MACROD2-IT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16144506
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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