A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645325



Internal ID7032075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14685343..14983114hg38UCSC Ensembl
Innerchr20:14685843..14982614hg38UCSC Ensembl
Outerchr20:14684343..14984114hg38UCSC Ensembl
chr20:14665989..14963760hg19UCSC Ensembl
Innerchr20:14666489..14963260hg19UCSC Ensembl
Outerchr20:14664989..14964760hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38297772
hg19297772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16144526, essv16144528, essv16144527, essv16144525
SamplesNA21105, NA20767, NA20897, NA18876
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645325
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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